23andMe: DNA Genetic Testing For Health, Ancestry And More

23andMe offers DNA testing with the most comprehensive ancestry breakdown, personalized health insights and more. Skiptomaincontent JourneythroughyourDNA. JourneythroughyourDNA. Experienceyourancestryinawholenewway. getancestry GetancestryforUSD$99 ExclusiveOffer:Buyonekit,get10%OFFeachadditionalkit. Seecartfordetails. Buynow OnlyancestryservicethatenablesyoutogetFDA-authorizedhealthreports FindoutwhatyourDNAsaysaboutyouandyourfamily. SeehowyourDNAbreaksoutacross2000+regionsworldwide DiscoverDNArelativesfromaroundtheworld Sharereportswithfamilyandfriends LearnhowyourDNAinfluencesyourfacialfeatures,taste,smellandothertraits ordernow USD$99 23pairsofchromosomes. Oneuniqueyou. Startexperiencingyour23pairsofchromosomes. Youaremadeofcells.Andthecellsinyourbodyhave23pairsofchromosomes.Your chromosomesaremadeofDNA,whichcantellyoualotaboutyou.Exploreyour23pairs today. Findoutwhatyour23pairsofchromosomescantellyou. Howitworks. It'sjustsaliva. Provideyoursalivasamplefromhome.Mailitbacktoourlabinthesamekitit camein—thepostageispre-paid. Webringyourgeneticstoyou. Learnmoreabouthowitworks. Ourlab.CLIA-certified. YourDNAanalysisisperformedinUSlaboratoriesthatarecertifiedtomeetCLIA standards—theClinicalLaboratoryImprovementAmendmentsof1988. ACLIA-certifiedlabmustmeetcertainqualitystandards,includingqualifications forindividualswhoperformthetestandotherstandardsthatensuretheaccuracy andreliabilityofresults. WeuseleadingtechnologytogenotypeyourDNA—acustomversionofthellluminaGlobalScreeningArray. Learnmoreaboutourprocess. thisisme® CustomerStories. GeneticJourneys. Wehearfromthousandsofcustomersaroundtheworldwhowriteintotellusabout their23andMeexperience—andtheimpactithashadontheirlife. Seestoriesthatinspireus. Whatisthehistoryofthecompany? 23andMewasfoundedin2006tohelppeopleaccess,understandandbenefit fromthehumangenome. Wehavemorethanfivemilliongenotypedcustomersaroundtheworld. Whatservicedoyouprovide? Duetoapplicableregulations,23andMeonlyoffersanAncestry+Traits PersonalGeneticServiceininternationalmarketsandhealthreportsare notavailable.TheserviceisinEnglishonly.Itrequiressubmittinga salivasampleusingoursalivacollectionkitthatyousendtothelab foranalysis. OurAncestry+TraitsServicehelpsyouunderstandwhoyouare,whereyour DNAcomesfromandyourfamilystory.Weanalyze,compile anddistillyourDNAinformationintoreportsonyourAncestryComposition, AncestryDetailReports,Traits,Haplogroups,andNeanderthalAncestry. WealsoprovideaDNARelativestooltoenableyoutoconnectwithrelatives whosharesimilarDNA,andanautomaticFamilyTreebuilder. Howaccuratearethereports? Ourrigorousqualitystandardsinclude: AllsalivasamplesareprocessedinCLIA-certifiedandCAP-accreditedlabs Genotypingisawell-establishedandreliableplatformforanalyzingDNA Ourteamofscientistsandmedicalexpertsusesarobustprocesstodevelop reportstoensurevalidity Yourpersonalizedreportsarebasedonwell-establishedscientificresearch Ancestrypercentagesarederivedfromourpowerful,well-testedsystemthat providesyouwithancestryestimatesdowntothe0.1% Howismyprivacyprotected? Youchoosehowyourgeneticinformationisusedandsharedwithothers.We tellyouhowthosechoicesareimplementedandhowwecollect,useand discloseyourinformation. Wewillnotshareyourindividual-levelinformationwithanythirdparty withoutyourexplicitconsent Wehavebeenlong-timesupportersoflegislativeeffortsintendedtoprevent geneticdiscriminationandtosafeguardindividuals'geneticprivacyandwill notprovideyourinformationorresultstoemployersorhealthinsurancecompanies. IntheUS,wewereactiveinthedevelopmentoftheGeneticInformation NondiscriminationAct(GINA)enactedin2008.Inaddition,wewereanactive supporterofS-201inCanada Wehaveguidelinesandpoliciesinplacetoprotectthepersonalinformation ofchildrenaswellasincapacitatedordeceasedindividuals Wedonotprovideinformationtolawenforcementunlesswearerequired tocomplywithavalidsubpoenaoracourt-orderedrequest Ourservice USD$99 Howitworks Stories Ourscience close AncestryReports 50+reports AncestryComposition AncestryDetailReports(48reports) Population-specificreportswithmapscovering2000+regions,offeringa granularviewofyourancestry,plusimmersiveeducationalcontent. Reportsincluded: Americas(Caribbean,Mexico&CentralAmerica,IndigenousAmerican,SouthAmerica);EastAsia(Chinese, ChineseDai,Filipino&Austronesian,Indonesian,Thai,Khmer&Myanma,Japanese,Korean,Manchurian &Mongolian,Siberian,Vietnamese);Europe(AshkenaziJewish,British&Irish,EasternEuropean, Finnish,French&German,Greek&Balkan,Italian,Sardinian,Scandinavian,Spanish&Portuguese); Oceania(Melanesian);Central&SouthAsia(Bengali&NortheastIndian,CentralAsian,GujaratiPatidar, MalayaliSubgroup,NorthernIndian&Pakistani,SouthernIndian&SriLankan,SouthernIndianSubgroup); Sub-SaharanAfrica(AfricanHunter-Gatherer,Angolan&Congolese,Ethiopian&Eritrean,Ghanaian,Liberian&SierraLeonean, Nigerian,Senegambian&Guinean,Somali,SouthernEastAfrican,Sudanese);WesternAsia&NorthAfrica(Anatolian,Coptic Egyptian,Cypriot,Egyptian,Iranian,Caucasian&Mesopotamian,Levantine,NorthAfrican,PeninsularArab) FamilyTree MaternalHaplogroup PaternalHaplogroup NeanderthalAncestry Seesamplereport Seesamplereport TraitReports 30+traits AbilitytoMatchMusicalPitch AsparagusOdorDetection BackHair(availableformenonly) BaldSpot(availableformenonly) BitterTaste Bunions CheekDimples CilantroTasteAversion CleftChin Dandruff EarlobeType EarlyHairLoss(availableformenonly) EarwaxType EyeColor FearofHeights FearofPublicSpeaking FingerLengthRatio FlatFeet Freckles HairPhotobleaching(hairlighteningfromthesun) HairTexture HairThickness IceCreamFlavorPreference LightorDarkHair Misophonia(hatredofthesoundofchewing) MosquitoBiteFrequency MotionSickness NewbornHair PhoticSneezeReflex RedHair SkinPigmentation StretchMarks Sweetvs.Salty ToeLengthRatio Unibrow Wake-UpTime Widow'sPeak Seesamplereport Seesamplereport HealthPredispositionReports* 10+reports Type2Diabetes ( Poweredby23andMeResearch ) Learnmore Geneticlikelihoodforadisorderofbloodsugarregulation 1,000+variantsinmanygenes;variantsfoundinmanyethnicities Age-RelatedMacularDegeneration Geneticriskforaformofadult-onsetvisionloss 2variants in theARMS2andCFHgenes; relevantforEuropeandescent Alpha-1AntitrypsinDeficiency Geneticriskforlungandliverdisease 2variants in theSERPINA1gene; relevantforEuropeandescent BRCA1/BRCA2(SelectedVariants) Learnmore Geneticriskbasedonalimitedsetofvariantsforbreast,ovarianandothercancers 3variants in theBRCA1andBRCA2genes; relevantforAshkenaziJewishdescent CeliacDisease Geneticriskforgluten-relatedautoimmunedisorder 2variants near theHLA-DQB1andHLA-DQA1genes; relevantforEuropeandescent ChronicKidneyDisease(APOL1-Related) Geneticriskforaformofchronickidneydisease 2variants in theAPOL1gene; relevantforAfricandescent FamilialHypercholesterolemia Geneticriskforveryhighcholesterol,whichcanincreasetheriskforheartdisease 24variants in theLDLRandAPOBgenes; relevantforEuropean,Lebanese,OldOrderAmishdescent G6PDDeficiency Geneticriskforaformofanemia 2variants in theG6PDgene; relevantforAfrican,SouthernEuropean,KurdishJewish,MiddleEastern,CentralAsian,SouthAsiandescent HereditaryAmyloidosis(TTR-Related) Geneticriskforaformofnerveandheartdamage 3variants in theTTRgene; relevantforAfricanAmerican,WestAfrican,Portuguese,NorthernSwedish,Japanese,Irish,Britishdescent HereditaryHemochromatosis(HFE‑Related) Geneticriskforironoverload 2variants in theHFEgene; relevantforEuropeandescent HereditaryThrombophilia Geneticriskforharmfulbloodclots 2variants in theF2andF5genes; relevantforEuropeandescent Late-OnsetAlzheimer'sDisease Geneticriskforaformofdementia 1variant in theAPOEgene; variantfoundandstudiedinmanyethnicities MUTYH-AssociatedPolyposis Geneticriskforaspecificcolorectalcancersyndrome 2variants in theMUTYHgene; relevantforNorthernEuropeandescent Parkinson'sDisease Geneticriskforaformofmovementimpairment 2variants in theLRRK2andGBAgenes; relevantforEuropean,AshkenaziJewish,NorthAfricanBerberdescent Seesamplereport Seesamplereport WellnessReports 5+reports AlcoholFlushReaction CaffeineConsumption DeepSleep GeneticWeight LactoseIntolerance MuscleComposition SaturatedFatandWeight SleepMovement Seesamplereport Seesamplereport CarrierStatusReports* 40+reports ARSACS 1variantintheSACS gene;relevantforFrenchCanadiandescent AgenesisoftheCorpusCallosumwithPeripheralNeuropathy 1variantintheSLC12A6 gene;relevantforFrenchCanadiandescent AutosomalRecessivePolycysticKidneyDisease 3variantsinthePKHD1 gene BetaThalassemiaandRelatedHemoglobinopathies 10variantsintheHBB gene;relevantforSardinian,Cypriot,Italian/Sicilian,Greekdescent BloomSyndrome 1variantintheBLM gene;relevantforAshkenaziJewishdescent CanavanDisease 3variantsintheASPA gene;relevantforAshkenaziJewishdescent CongenitalDisorderofGlycosylationType1a(PMM2-CDG) 2variantsinthePMM2 gene;relevantforAshkenaziJewish,Danishdescent CysticFibrosis 29variantsintheCFTR gene;relevantforAshkenaziJewish,European,Hispanic/Latinodescent D-BifunctionalProteinDeficiency 2variantsintheHSD17B4 gene DihydrolipoamideDehydrogenaseDeficiency 1variantintheDLD gene;relevantforAshkenaziJewishdescent FamilialDysautonomia 1variantintheELP1 gene;relevantforAshkenaziJewishdescent FamilialHyperinsulinism(ABCC8-Related) 3variantsintheABCC8 gene;relevantforAshkenaziJewishdescent FamilialMediterraneanFever 7variantsintheMEFV gene;relevantforArab,Armenian,SephardicJewish,Turkishdescent FanconiAnemiaGroupC 3variantsintheFANCC gene;relevantforAshkenaziJewishdescent GRACILESyndrome 1variantintheBCS1L gene;relevantforFinnishdescent GaucherDiseaseType1 3variantsintheGBA gene;relevantforAshkenaziJewishdescent GlycogenStorageDiseaseTypeIa 1variantintheG6PC gene;relevantforAshkenaziJewishdescent GlycogenStorageDiseaseTypeIb 2variantsintheSLC37A4 gene HereditaryFructoseIntolerance 4variantsintheALDOB gene;relevantforEuropeandescent HerlitzJunctionalEpidermolysisBullosa(LAMB3-Related) 3variantsintheLAMB3 gene LeighSyndrome,FrenchCanadianType 1variantintheLRPPRC gene;relevantforFrenchCanadiandescent Limb-GirdleMuscularDystrophyType2D 1variantintheSGCA gene Limb-GirdleMuscularDystrophyType2E 1variantintheSGCB gene;relevantforAmishdescent Limb-GirdleMuscularDystrophyType2I 1variantintheFKRP gene MCADDeficiency 4variantsintheACADM gene;relevantforEuropeandescent MapleSyrupUrineDiseaseType1B 2variantsintheBCKDHB gene;relevantforAshkenaziJewishdescent MucolipidosisTypeIV 1variantintheMCOLN1 gene;relevantforAshkenaziJewishdescent NeuronalCeroidLipofuscinosis(CLN5-Related) 1variantintheCLN5 gene;relevantforFinnishdescent NeuronalCeroidLipofuscinosis(PPT1-Related) 3variantsinthePPT1 gene;relevantforFinnishdescent Niemann-PickDiseaseTypeA 3variantsintheSMPD1 gene;relevantforAshkenaziJewishdescent NijmegenBreakageSyndrome 1variantintheNBN gene NonsyndromicHearingLossandDeafness,DFNB1(GJB2-Related) 2variantsintheGJB2 gene;relevantforAshkenaziJewish,Europeandescent PendredSyndromeandDFNB4HearingLoss(SLC26A4-Related) 6variantsintheSLC26A4 gene PhenylketonuriaandRelatedDisorders 23variantsinthePAH gene;relevantforIrish,NorthernEuropeandescent PrimaryHyperoxaluriaType2 1variantintheGRHPR gene PyruvateKinaseDeficiency 1variantinthePKLR gene RhizomelicChondrodysplasiaPunctataType1 1variantinthePEX7 gene SallaDisease 1variantintheSLC17A5 gene;relevantforFinnish,Swedishdescent SickleCellAnemia 1variantintheHBB gene;relevantforAfricanAmerican,African,MiddleEastern,SouthAsian,Caribbean,Mediterranean,CentralandSouthAmericandescent Sjögren-LarssonSyndrome 1variantintheALDH3A2 gene;relevantforSwedishdescent Tay-SachsDisease 4variantsintheHEXA gene;relevantforAshkenaziJewish,Cajundescent TyrosinemiaTypeI 4variantsintheFAH gene;relevantforFrenchCanadian,Finnishdescent UsherSyndromeType1F 1variantinthePCDH15 gene;relevantforAshkenaziJewishdescent UsherSyndromeType3A 1variantintheCLRN1 gene;relevantforAshkenaziJewishdescent ZellwegerSyndromeSpectrum(PEX1-Related) 1variantinthePEX1 gene Seesamplereport Seesamplereport close Ancestry USD$99 AncestryReports 50+reports AncestryComposition AncestryDetailReports(48reports) Population-specificreportswithmapscovering2000+regions,offeringa granularviewofyourancestry,plusimmersiveeducationalcontent. Reportsincluded: Americas(Caribbean,Mexico&CentralAmerica,IndigenousAmerican,SouthAmerica);EastAsia(Chinese, ChineseDai,Filipino&Austronesian,Indonesian,Thai,Khmer&Myanma,Japanese,Korean,Manchurian &Mongolian,Siberian,Vietnamese);Europe(AshkenaziJewish,British&Irish,EasternEuropean, Finnish,French&German,Greek&Balkan,Italian,Sardinian,Scandinavian,Spanish&Portuguese); Oceania(Melanesian);Central&SouthAsia(Bengali&NortheastIndian,CentralAsian,GujaratiPatidar, MalayaliSubgroup,NorthernIndian&Pakistani,SouthernIndian&SriLankan,SouthernIndianSubgroup); Sub-SaharanAfrica(AfricanHunter-Gatherer,Angolan&Congolese,Ethiopian&Eritrean,Ghanaian,Liberian&SierraLeonean, Nigerian,Senegambian&Guinean,Somali,SouthernEastAfrican,Sudanese);WesternAsia&NorthAfrica(Anatolian,Coptic Egyptian,Cypriot,Egyptian,Iranian,Caucasian&Mesopotamian,Levantine,NorthAfrican,PeninsularArab) FamilyTree MaternalHaplogroup PaternalHaplogroup NeanderthalAncestry Seesamplereport Seesamplereport TraitReports 30+traits AbilitytoMatchMusicalPitch AsparagusOdorDetection BackHair(availableformenonly) BaldSpot(availableformenonly) BitterTaste Bunions CheekDimples CilantroTasteAversion CleftChin Dandruff EarlobeType EarlyHairLoss(availableformenonly) EarwaxType EyeColor FearofHeights FearofPublicSpeaking FingerLengthRatio FlatFeet Freckles HairPhotobleaching(hairlighteningfromthesun) HairTexture HairThickness IceCreamFlavorPreference LightorDarkHair Misophonia(hatredofthesoundofchewing) MosquitoBiteFrequency MotionSickness NewbornHair PhoticSneezeReflex RedHair SkinPigmentation StretchMarks Sweetvs.Salty ToeLengthRatio Unibrow Wake-UpTime Widow'sPeak Seesamplereport Seesamplereport Health+Ancestry USD$ AncestryReports 50+reports AncestryComposition AncestryDetailReports(48reports) Population-specificreportswithmapscovering2000+regions,offeringa granularviewofyourancestry,plusimmersiveeducationalcontent. Reportsincluded: Americas(Caribbean,Mexico&CentralAmerica,IndigenousAmerican,SouthAmerica);EastAsia(Chinese, ChineseDai,Filipino&Austronesian,Indonesian,Thai,Khmer&Myanma,Japanese,Korean,Manchurian &Mongolian,Siberian,Vietnamese);Europe(AshkenaziJewish,British&Irish,EasternEuropean, Finnish,French&German,Greek&Balkan,Italian,Sardinian,Scandinavian,Spanish&Portuguese); Oceania(Melanesian);Central&SouthAsia(Bengali&NortheastIndian,CentralAsian,GujaratiPatidar, MalayaliSubgroup,NorthernIndian&Pakistani,SouthernIndian&SriLankan,SouthernIndianSubgroup); Sub-SaharanAfrica(AfricanHunter-Gatherer,Angolan&Congolese,Ethiopian&Eritrean,Ghanaian,Liberian&SierraLeonean, Nigerian,Senegambian&Guinean,Somali,SouthernEastAfrican,Sudanese);WesternAsia&NorthAfrica(Anatolian,Coptic Egyptian,Cypriot,Egyptian,Iranian,Caucasian&Mesopotamian,Levantine,NorthAfrican,PeninsularArab) FamilyTree MaternalHaplogroup PaternalHaplogroup NeanderthalAncestry Seesamplereport Seesamplereport TraitReports 30+traits AbilitytoMatchMusicalPitch AsparagusOdorDetection BackHair(availableformenonly) BaldSpot(availableformenonly) BitterTaste Bunions CheekDimples CilantroTasteAversion CleftChin Dandruff EarlobeType EarlyHairLoss(availableformenonly) EarwaxType EyeColor FearofHeights FearofPublicSpeaking FingerLengthRatio FlatFeet Freckles HairPhotobleaching(hairlighteningfromthesun) HairTexture HairThickness IceCreamFlavorPreference LightorDarkHair Misophonia(hatredofthesoundofchewing) MosquitoBiteFrequency MotionSickness NewbornHair PhoticSneezeReflex RedHair SkinPigmentation StretchMarks Sweetvs.Salty ToeLengthRatio Unibrow Wake-UpTime Widow'sPeak Seesamplereport Seesamplereport HealthPredispositionReports* 10+reports Type2Diabetes ( Poweredby23andMeResearch ) Learnmore Geneticlikelihoodforadisorderofbloodsugarregulation 1,000+variantsinmanygenes;variantsfoundinmanyethnicities Age-RelatedMacularDegeneration Geneticriskforaformofadult-onsetvisionloss 2variants in theARMS2andCFHgenes; relevantforEuropeandescent Alpha-1AntitrypsinDeficiency Geneticriskforlungandliverdisease 2variants in theSERPINA1gene; relevantforEuropeandescent BRCA1/BRCA2(SelectedVariants) Learnmore Geneticriskbasedonalimitedsetofvariantsforbreast,ovarianandothercancers 3variants in theBRCA1andBRCA2genes; relevantforAshkenaziJewishdescent CeliacDisease Geneticriskforgluten-relatedautoimmunedisorder 2variants near theHLA-DQB1andHLA-DQA1genes; relevantforEuropeandescent ChronicKidneyDisease(APOL1-Related) Geneticriskforaformofchronickidneydisease 2variants in theAPOL1gene; relevantforAfricandescent FamilialHypercholesterolemia Geneticriskforveryhighcholesterol,whichcanincreasetheriskforheartdisease 24variants in theLDLRandAPOBgenes; relevantforEuropean,Lebanese,OldOrderAmishdescent G6PDDeficiency Geneticriskforaformofanemia 2variants in theG6PDgene; relevantforAfrican,SouthernEuropean,KurdishJewish,MiddleEastern,CentralAsian,SouthAsiandescent HereditaryAmyloidosis(TTR-Related) Geneticriskforaformofnerveandheartdamage 3variants in theTTRgene; relevantforAfricanAmerican,WestAfrican,Portuguese,NorthernSwedish,Japanese,Irish,Britishdescent HereditaryHemochromatosis(HFE‑Related) Geneticriskforironoverload 2variants in theHFEgene; relevantforEuropeandescent HereditaryThrombophilia Geneticriskforharmfulbloodclots 2variants in theF2andF5genes; relevantforEuropeandescent Late-OnsetAlzheimer'sDisease Geneticriskforaformofdementia 1variant in theAPOEgene; variantfoundandstudiedinmanyethnicities MUTYH-AssociatedPolyposis Geneticriskforaspecificcolorectalcancersyndrome 2variants in theMUTYHgene; relevantforNorthernEuropeandescent Parkinson'sDisease Geneticriskforaformofmovementimpairment 2variants in theLRRK2andGBAgenes; relevantforEuropean,AshkenaziJewish,NorthAfricanBerberdescent Seesamplereport Seesamplereport WellnessReports 5+reports AlcoholFlushReaction CaffeineConsumption DeepSleep GeneticWeight LactoseIntolerance MuscleComposition SaturatedFatandWeight SleepMovement Seesamplereport Seesamplereport CarrierStatusReports* 40+reports ARSACS 1variantintheSACS gene;relevantforFrenchCanadiandescent AgenesisoftheCorpusCallosumwithPeripheralNeuropathy 1variantintheSLC12A6 gene;relevantforFrenchCanadiandescent AutosomalRecessivePolycysticKidneyDisease 3variantsinthePKHD1 gene BetaThalassemiaandRelatedHemoglobinopathies 10variantsintheHBB gene;relevantforSardinian,Cypriot,Italian/Sicilian,Greekdescent BloomSyndrome 1variantintheBLM gene;relevantforAshkenaziJewishdescent CanavanDisease 3variantsintheASPA gene;relevantforAshkenaziJewishdescent CongenitalDisorderofGlycosylationType1a(PMM2-CDG) 2variantsinthePMM2 gene;relevantforAshkenaziJewish,Danishdescent CysticFibrosis 29variantsintheCFTR gene;relevantforAshkenaziJewish,European,Hispanic/Latinodescent D-BifunctionalProteinDeficiency 2variantsintheHSD17B4 gene DihydrolipoamideDehydrogenaseDeficiency 1variantintheDLD gene;relevantforAshkenaziJewishdescent FamilialDysautonomia 1variantintheELP1 gene;relevantforAshkenaziJewishdescent FamilialHyperinsulinism(ABCC8-Related) 3variantsintheABCC8 gene;relevantforAshkenaziJewishdescent FamilialMediterraneanFever 7variantsintheMEFV gene;relevantforArab,Armenian,SephardicJewish,Turkishdescent FanconiAnemiaGroupC 3variantsintheFANCC gene;relevantforAshkenaziJewishdescent GRACILESyndrome 1variantintheBCS1L gene;relevantforFinnishdescent GaucherDiseaseType1 3variantsintheGBA gene;relevantforAshkenaziJewishdescent GlycogenStorageDiseaseTypeIa 1variantintheG6PC gene;relevantforAshkenaziJewishdescent GlycogenStorageDiseaseTypeIb 2variantsintheSLC37A4 gene HereditaryFructoseIntolerance 4variantsintheALDOB gene;relevantforEuropeandescent HerlitzJunctionalEpidermolysisBullosa(LAMB3-Related) 3variantsintheLAMB3 gene LeighSyndrome,FrenchCanadianType 1variantintheLRPPRC gene;relevantforFrenchCanadiandescent Limb-GirdleMuscularDystrophyType2D 1variantintheSGCA gene Limb-GirdleMuscularDystrophyType2E 1variantintheSGCB gene;relevantforAmishdescent Limb-GirdleMuscularDystrophyType2I 1variantintheFKRP gene MCADDeficiency 4variantsintheACADM gene;relevantforEuropeandescent MapleSyrupUrineDiseaseType1B 2variantsintheBCKDHB gene;relevantforAshkenaziJewishdescent MucolipidosisTypeIV 1variantintheMCOLN1 gene;relevantforAshkenaziJewishdescent NeuronalCeroidLipofuscinosis(CLN5-Related) 1variantintheCLN5 gene;relevantforFinnishdescent NeuronalCeroidLipofuscinosis(PPT1-Related) 3variantsinthePPT1 gene;relevantforFinnishdescent Niemann-PickDiseaseTypeA 3variantsintheSMPD1 gene;relevantforAshkenaziJewishdescent NijmegenBreakageSyndrome 1variantintheNBN gene NonsyndromicHearingLossandDeafness,DFNB1(GJB2-Related) 2variantsintheGJB2 gene;relevantforAshkenaziJewish,Europeandescent PendredSyndromeandDFNB4HearingLoss(SLC26A4-Related) 6variantsintheSLC26A4 gene PhenylketonuriaandRelatedDisorders 23variantsinthePAH gene;relevantforIrish,NorthernEuropeandescent PrimaryHyperoxaluriaType2 1variantintheGRHPR gene PyruvateKinaseDeficiency 1variantinthePKLR gene RhizomelicChondrodysplasiaPunctataType1 1variantinthePEX7 gene SallaDisease 1variantintheSLC17A5 gene;relevantforFinnish,Swedishdescent SickleCellAnemia 1variantintheHBB gene;relevantforAfricanAmerican,African,MiddleEastern,SouthAsian,Caribbean,Mediterranean,CentralandSouthAmericandescent Sjögren-LarssonSyndrome 1variantintheALDH3A2 gene;relevantforSwedishdescent Tay-SachsDisease 4variantsintheHEXA gene;relevantforAshkenaziJewish,Cajundescent TyrosinemiaTypeI 4variantsintheFAH gene;relevantforFrenchCanadian,Finnishdescent UsherSyndromeType1F 1variantinthePCDH15 gene;relevantforAshkenaziJewishdescent UsherSyndromeType3A 1variantintheCLRN1 gene;relevantforAshkenaziJewishdescent ZellwegerSyndromeSpectrum(PEX1-Related) 1variantinthePEX1 gene Seesamplereport Seesamplereport close Selectreportcategory LearnmoreaboutGeneticHealthRisksandCarrierStatus reports,geneticcounselingandwhattoknowabouttestresults.Formoreinformation aboutotherreportsincludedinourHealth+AncestryService,includingWellness, TraitsandAncestry,clickhere. GeneticHealthRisks GeneticHealthRiskreportstellyouaboutgeneticvariantsassociated withincreasedriskforcertainhealthconditions. learnmore CarrierStatus CarrierStatusteststellyouwhetheryoucarrygeneticvariantsthatmaynotaffect yourhealth,butcouldaffectthehealthofyourfamily. learnmore GeneticHealthRisks CarrierStatus 23andMeGeneticHealthRiskReports ThefollowinginformationappliestoGeneticHealthRiskreportsonly. Whatyoushouldknow 23andMeGeneticHealthRiskReports: Whatyoushouldknow GeneticHealthRiskreportstellyouaboutgeneticvariantsassociatedwithincreased riskforcertainhealthconditions.Theydonotdiagnosecanceroranyotherhealthconditionsor determinemedicalaction. Havingariskvariantdoesnotmeanyouwilldefinitelydevelopahealthcondition. Similarly,youcouldstilldeveloptheconditionevenifyoudon'thaveavariantdetected.Itis possibletohaveothergeneticriskvariantsnotincludedinthesereports. Factorslikelifestyleandenvironmentcanalsoaffectwhetherapersondevelops mosthealthconditions.Ourreportscannottellyouaboutyouroverallriskfortheseconditions,and theycannotdetermineifyouwillorwillnotdevelopacondition. Thesereportsdonotreplacevisitstoahealthcareprofessional.Consultwitha healthcareprofessionalforhelpinterpretingandusinggeneticresults.Resultsshould notbeusedtomakemedicaldecisions. Expandcontent Weencourageyoutospeaktoageneticcounselor Weencourageyoutospeaktoageneticcounselor Therearemanythingstothinkaboutwhendecidingwhethergenetictestingisrightforyou.Although thesetestscanprovideimportantinformationabouthealthrisks,theycanalsobeupsettingorraise questionsaboutwhattheresultsmean.Genetictestsalsohavecertainlimitationsthatareimportantto understand.Yourpersonalandfamilymedicalhistory,aswellasyourgoalsfortesting,shouldallfactorinto yourdecisionsaboutwhetherandhowtotest. Ageneticcounselor,ahealthcareprofessionalwithspecialtrainingingeneticconditions,willbeableto answeryourquestionsandhelpyoumakeaninformedchoice.Werecommendthatyouspeakwitha geneticcounselorbeforetesting,andalsoaftertestingtohelpyouunderstandyourresultsandwhat actionsyoushouldtake.Thisisespeciallyimportantforhealthconditionsthatarepreventableortreatable. Geneticcounselorscanhelpyounavigatecommonquestions,suchas: Whataretherisksandbenefitsofgenetictesting? Aretherediseasesthatruninthefamily? Howdoyouhandlepotentiallydistressinginformation? Whatareyouhopingtofindoutfromgenetictesting? Talktoyourhealthcareproviderorclickheretosearchforageneticcounselornear you(thislinktakesyoutoapagemanagedbytheNationalSocietyofGeneticCounselors: http://www.aboutgeneticcounselors.com/). Expandcontent WhattoknowaboutGeneticHealthRiskreports WhattoknowaboutGeneticHealthRiskreports Possibletestresults Variant(s)notdetected Youdonothavethevariant(s)wetested.Sincethesetestsdonotincludeallvariantsthat mayimpactyourriskofdevelopingacondition,youmaystillhaveanothervariantthatcould affectyourrisk.Non-geneticfactorsmayalsoaffectyourrisk. Variant(s)detected Youhaveoneormoreofthevariantswetested.Youmaybeatincreasedriskfortheconditionbasedonthis result.Thisdoesnotmeanyouwilldefinitelydevelopthecondition.Otherfactorsmayalsoaffectyourrisk. Resultnotdetermined Yourtestresultcouldnotbedetermined.Thiscanbecausedbyrandomtesterrororotherfactorsthat interferewiththetest. Insomecases,thelaboratorymaynotbeableto processyoursample.Ifthishappens,wewillnotifyyou byemailandyoumayrequestonefreereplacement kit. Othercompaniesofferinggeneticrisktestsmay includedifferentvariantsforthesamehealthcondition. Thismeansthatit'spossibletogetdifferentresults usingatestfromadifferentcompany. Whattodowiththeresults Ifyourreportsaysyouhavevariantsassociatedwithincreasedrisk Considersharingtheresultwithahealthcareprofessional. Certainresults,suchashavingavariantdetectedfortheBRCA1/ BRCA2(SelectedVariants)report,maywarrantpromptfollow-up withahealthcareprofessional,sinceeffectiveoptionsmayexist topreventorreduceriskfordisease.Eachreportwillprovide morespecificguidance. Considersharingyourresultswithrelatives.Theymayalsohavethesevariants.Keepinmindthatsomepeoplemaynotwanttoknowinformationaboutgenetichealthrisks. Ifyourreportsaysyoudonothaveanyriskvariantsdetected Continuetofollowscreeningandotherhealthybehaviors recommendedbyyourhealthcareprovider.Thisisbecauseour reportsdonotcoverallfactorsthatmightinfluencerisk. Concernedaboutyourrisk? Ifyouhaveotherriskfactorsforthecondition,youshoulddiscusstheconditionwithadoctor. Youcanalsodiscussyourresultswitha geneticcounselor(thislinktakesyoutoapagemanagedbytheNationalSocietyof GeneticCounselorstofindageneticcounselornearyou:http://www.aboutgeneticcounselors.com/). GeneticHealthRiskreportsareintendedtoprovideyouwith geneticinformationtoinformconversationswithahealthcare professional.Thesereportsshouldnotbeusedtomakemedical decisions.Alwaysconsultwithahealthcareprofessionalbefore takinganymedicalaction. Expandcontent YouwillbeaskedwhetheryouwanttoreceivecertainGeneticHealthRiskreports YouwillbeaskedwhetheryouwanttoreceivecertainGeneticHealthRiskreports Someofourreportsareaboutseriousdiseasesthatmaynothaveaneffectivetreatmentor cure.Othersmayhaveeffectivetreatmentorpreventionoptions,buttheseactionsmaycarry theirownhealthrisks.Youmaybeupsetbylearningaboutgeneticrisksforthesediseases,and aboutgeneticrisksforfamilymemberswhoshareDNA.Ifyoutendtofeelanxiousorhavea personalhistoryofdepressionoranxiety,thisinformationmaybemorelikelytobe upsetting.Knowingaboutgeneticrisks couldalsoaffectyourabilitytogetsomekindsofinsurance. Youcanchoosetoexcludethefollowingreportsindividuallyfromyouraccountbeforeyourresults arereturnedtoyou: BRCA1/BRCA2(SelectedVariants) MUTYH-AssociatedPolyposis Late-OnsetAlzheimer’sDisease Parkinson’sDisease Ifyouareinterestedinreceivingthesereports,werecommendthatyouconsultwithagenetic counselorbeforepurchasing.Additionalrelevantinformationaboutthesereportswillbe providedwhenyougothroughtheprocessofsettingyourreportpreferences,afterregistering yourkit. Expandcontent WhattoknowaboutourGeneticHealthRiskreports WhattoknowaboutourGeneticHealthRiskreports Age-RelatedMacularDegeneration Alpha-1AntitrypsinDeficiency BRCA1/BRCA2(SelectedVariants) CeliacDisease ChronicKidneyDisease(APOL1-Related) FamilialHypercholesterolemia G6PDDeficiency HereditaryAmyloidosis(TTR-Related) HereditaryHemochromatosis(HFE‑Related) HereditaryThrombophilia Late-OnsetAlzheimer'sDisease MUTYH-AssociatedPolyposis Parkinson'sDisease SelectaCondition Age-RelatedMacularDegeneration Alpha-1AntitrypsinDeficiency BRCA1/BRCA2(SelectedVariants) CeliacDisease ChronicKidneyDisease(APOL1-Related) FamilialHypercholesterolemia G6PDDeficiency HereditaryAmyloidosis(TTR-Related) HereditaryHemochromatosis(HFE‑Related) HereditaryThrombophilia Late-OnsetAlzheimer'sDisease MUTYH-AssociatedPolyposis Parkinson'sDisease Viewsamplereporthere Viewpackageinserthere Whattoknowabout: Age-RelatedMacularDegeneration andourtest Age-relatedmaculardegeneration(AMD)isthemostcommoncauseofirreversiblevisionlossamongolderadults.Thediseaseresultsindamagetothecentralpartoftheretina(themacula),impairingvisionneededforreading,driving,orevenrecognizingfaces.Thistestincludesthetwomostcommonvariantsassociatedwithanincreasedriskofdevelopingthecondition. Typicalsignsandsymptoms Blurredordistortedvision Visionloss Yellowfattydepositsintheretinacalled"drusen" Bloodorfluidleakageintheretina Otherfactorsthatinfluencerisk Smoking Age Familyhistory Ethnicity Diet Whensymptomsdevelop AMDisrarelydiagnosedinpeopleundertheageof50.VisionlossrelatedtoAMDusuallybecomesnoticeableinaperson's60sor70sandtendstoworsenovertime. Howit'streated ThereiscurrentlynoknownpreventionorcureforAMD.Havingregulareyeexamscanhelpdetectearlysignsofthecondition.ProgressionofAMDcanbeslowedwiththeuseofcertaintreatmentsandmedications. Whatdowetest? TestsfortheY402HvariantintheCFHgeneandtheA69SvariantintheARMS2geneassociatedwithanincreasedriskofdevelopingAMD. GenetictestingforAMDisnotcurrentlyrecommendedbyanyhealthcareprofessionalorganizations. Relevantethnicities Thevariantsincludedinthistestarecommoninmanyethnicities,butarebeststudiedinpeopleofEuropeandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Whattoknowabout: Alpha-1AntitrypsinDeficiency andourtest AATdeficiencyisageneticconditionthatcanleadtolungandliverdisease.Itiscausedbydecreasedlevelsofthealpha-1antitrypsin(AAT)protein.Thistestincludesthetwomostcommonvariantslinkedtothisdeficiency. PotentialsignsandsymptomsofAATdeficiency Shortnessofbreathandwheezing Chroniccough Recurrentlunginfections Lungdisease,includingemphysema Liverdisease,includingcirrhosis Otherfactorsthatincreaserisk GeneticvariantsaretheonlyriskfactorforAATdeficiency.Inpeoplewith geneticriskvariants,thechancesofdevelopingsymptomsofAATdeficiencydepend onlifestyle,environment,andotherfactors. Smoking Occupationalandotherexposures Personalorfamilyhistoryoflungdisease Certaininfections Whensymptomsdevelop Becauseitisageneticcondition,AATdeficiencyispresentatbirth.Symptomsoflungdiseaseusuallyappearlaterinlife,andageofonsetisstronglyaffectedbysmoking.Somepeoplemayneverhavesymptomsoflungdisease,especiallyiftheydon'tsmoke.Liverproblemsmaydevelopanytimefrominfancytoadulthood. Howit'streated Thereiscurrentlynoknowncure.PeoplewithAATdeficiencyareencouragedtoavoidsmokingandconsidergettingcertainvaccinations.Forthosewithsymptoms,treatmentfocusesonmanagementoflungandliverproblems.DirectreplacementoftheAATproteinintothebloodmaybeusedtoslowtheprogressionoflungdisease.Lungandlivertransplantsmaybebeneficialinsomecases. Whatdowetest? TestsforthePI*ZandPI*SvariantsintheSERPINA1genelinkedtoAATdeficiency. TestingforgeneticvariantsassociatedwithAATdeficiencyisrecommendedundercertaincircumstancesbyseveralhealthprofessionalorganizations,includingtheAmericanThoracicSociety. Relevantethnicities ThevariantsincludedinthistestaremostcommonandbeststudiedinpeopleofEuropeandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Whattoknowabout: BRCA1/BRCA2(SelectedVariants) andourtest SpecificgeneticvariantsintheBRCA1andBRCA2genesareassociatedwithanincreasedriskofdevelopingcertaincancers,includingbreastcancer(inwomenandmen)andovariancancer.Thesevariantsmayalsobeassociatedwithanincreasedriskforprostatecancerandcertainothercancers.ThistestincludesthreegeneticvariantsintheBRCA1andBRCA2genesthataremostcommoninpeopleofAshkenaziJewishdescent. BRCA1-andBRCA2-associatedcancerrisks Womenwithavarianthavea45-85%chanceofdevelopingbreastcancerbyage70anduptoa46%chanceofdevelopingovariancancerbyage70. Menwithavarianthaveuptoan8%lifetimeriskofdevelopingmalebreastcancerandmayhaveanincreasedriskforprostatecancer. Menandwomenwithavariantmayalsohaveanincreasedriskforpancreaticcancerandmelanoma. Learnmoreaboutthesecancerrisks Otherfactorsthataffectcancerrisk Age Familyhistory Obesity Lifestylefactors Whencancersdevelop Ingeneral,thechancesofdevelopingcancerincreaseasapersongetsolder.However,womenwithaBRCA1orBRCA2varianthaveanincreasedriskforearly-onsetbreastcancer.Menwithavariantmaydevelopearlierandmoreaggressiveprostatecancer. Screeningandprevention GuidelinesrecommendthatwomenwithaBRCA1orBRCA2variantshouldbescreenedforbreastcancerearlierandmoreoften.Risk-reducingsurgeryormedicationmayalsobeoffered.Menwithavariantshouldbescreenedforbreastcancer.Screeningguidelinesforprostatecancervary.PeoplewithaBRCA1orBRCA2variantandafamilyhistoryofpancreaticcancermayalsobeofferedpancreaticcancerscreening.Thistestisnotasubstituteforvisitstoahealthcareprofessionalforrecommendedscreenings.Resultsshouldbeconfirmedinaclinicalsettingbeforetakinganymedicalaction.Itisimportanttotalkwithahealthcareprofessionalbeforetakinganymedicalaction. Whatdowetest? Wetestforthreespecificgeneticvariants:the185delAGand5382insCvariantsintheBRCA1geneandthe6174delTvariantintheBRCA2gene.Thesevariantsareassociatedwithanincreasedriskofdevelopingcertaincancers. WedonottestforallpossiblevariantsintheBRCA1andBRCA2genes.Morethan1,000variantsinthesegenesareknowntoincreasecancerrisk. Thistestdoesnotincludevariantsinothergeneslinkedtohereditarycancers. GenetictestingforBRCA1andBRCA2variantsinthegeneralpopulationisnotcurrentlyrecommendedbyanyhealthcareprofessionalorganizations. Importantethnicities ThethreevariantsincludedinthistestaremostcommonlyfoundinpeopleofAshkenaziJewishdescent. In23andMecustomersofotherethnicities,between0%and0.1%ofindividualshasoneofthethreevariantsinthisreport. ThistestdoesnotincludemostoftheBRCA1andBRCA2variantsfoundinpeopleofotherethnicities.Therefore,a"variantsnotdetected"resultislessinformativeforpeoplewithnoAshkenaziJewishancestry. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. ViewFrequentlyAskedQuestionsaboutthisreporthere Whattoknowabout: CeliacDisease andourtest Celiacdiseaseisanautoimmuneconditioninwhichtheconsumptionofgluten(foundinwheat,barley,andrye)canresultindamagetothesmallintestine.Celiacdiseasecanleadtobothdigestiveandnon-digestiveproblems.Thistestincludestwocommonvariantsassociatedwithanincreasedriskofdevelopingthiscondition. Typicalsignsandsymptoms Diarrhea,gas,andbloating Poorappetite Skinrashes Fatigue Anemia Headache Otherfactorsthatinfluencerisk Gluten Familyhistory Otherconditions Whensymptomsdevelop Celiacdiseasecandevelopanytimefrominfancytoadulthood,mostcommonlybetweentheagesof10and40.Inpeoplewithceliacdisease,symptomsoccurafterconsuminggluten. Howit'streated Celiacdiseasecanbeeffectivelytreatedbyremovingallsourcesofglutenfromthediet.Thisincludesfoodsanddrinksmadewithwheat,barley,andrye. Whatdowetest? TestsforvariantsneartheHLA-DQA1andHLA-DQB1geneslinkedtotheHLA-DQ2.5andHLA-DQ8haplotypes.Thesehaplotypesareassociatedwithceliacdisease. Genetictestingforceliacdiseaseisrecommendedundercertaincircumstancesbyseveralhealthprofessionalorganizations,includingtheAmericanCollegeofGastroenterology. Relevantethnicities Thevariantsincludedinthistestarecommoninmanyethnicities,butarebeststudiedinpeopleofEuropeandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Whattoknowabout: ChronicKidneyDisease(APOL1-Related) andourtest Chronickidneydiseaseisaconditioninwhichthekidneysstopworkingproperlyovertime.Becausethekidneysserveasfiltersforourblood,chronickidneydiseasecancauseexcessfluidandwastefromthebloodtobuildupinthebody.Thiscanleadtohealthproblemsincludingbonedamage,heartdisease,andstroke.ThistestincludestwovariantsintheAPOL1genethatcanincreasetheriskofdevelopingchronickidneydisease.ThesevariantsaremostcommoninpeopleofAfricandescent. Typicalsignsandsymptoms Chronickidneydiseaseoftenhasnosymptomsatfirst.Earlychronickidneydiseaseisoftendiagnosedusingbloodandurineteststhatlookforlossofkidneyfunction(calledreducedglomerularfiltrationrate)andthepresenceofproteinintheurine(calledalbuminuria). Symptomssuchasnausea,fatigue,highbloodpressure,andswellingofthefeetandankles(callededema)canoccurastheconditionprogresses. Complicationsofchronickidneydiseaseincludeheartdiseaseorstroke,anemia,boneproblems,aweakenedimmunesystem,andkidneyfailure. Otherfactorsthatinfluenceriskforchronickidneydisease Highbloodpressure Diabetes Age Ethnicity Familyhistory Otherhealthconditions Whensymptomsdevelop Ingeneral,theriskofdevelopingchronickidneydiseaseincreaseswithage.Mostcasesofchronickidneydiseasearediagnosedinpeopleage65andover.However,peoplewithAPOL1-relatedchronickidneydiseasetendtodeveloptheconditionatanearlierage.Theirkidneyfunctionalsotendstodeclinemorequicklythanpeoplewhosechronickidneydiseaseisduetootherfactors. Howit'streated Treatmentforchronickidneydiseasedependsontheseverityofthecondition.Whendetectedearly,chronickidneydiseasemaybetreatedinpartthroughlifestylechangestoslowprogression.Medicationsmayalsobeprescribedtotreatsymptoms.Iftheconditionprogressestoend-stagekidneydisease(alsocalledkidneyfailure),patientsmayrequireongoingdialysis(aprocedurethatartificiallyfilterswasteandextrafluidfromtheblood)orakidneytransplant. Whatdowetest? TestsfortheS342GandN388_Y389delvariantsintheAPOL1gene,whichareusedtodefinetheG1andG2haplotypes,respectively.Thesehaplotypesarelinkedtoanincreasedriskforchronickidneydisease. GenetictestingforAPOL1variantsinthegeneralpopulationisnotcurrentlyrecommendedbyanyhealthcareprofessionalorganizations. MostcasesofchronickidneydiseasearenotcausedbytheAPOL1variantsinthisreport. Relevantethnicities ThevariantsincludedinthistestaremostcommonandbeststudiedinpeopleofAfricandescent. ThesevariantsarealsofoundinpeoplewithAfricanancestry,includingpeopleofHispanicorLatinodescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Whattoknowabout: FamilialHypercholesterolemia andourtest Familialhypercholesterolemia(FH)isageneticconditionassociatedwithveryhighlevelsofcholesterolintheblood,specificallylow-densitylipoprotein(LDL),or"bad"cholesterol.HighcholesterolduetoFHincreasestheriskforearlycardiovasculardisease,whichcanleadtoaheartattack.Thistestincludes24geneticvariantslinkedtoFH. Typicalsignsandsymptoms ElevatedtotalandLDLcholesterollevels Heartdisease,heartattack,orchestpain Insomecases,cholesteroldepositsmaybuildupintheskinortendons(xanthomas),undertheskinintheeyelids(xanthelasmas),oraroundthecorneaoftheeye(cornealarcus) Otherfactorsthatinfluencerisk Familyhistory Age Highbloodpressure Smoking Othergeneticfactors Lifestyle Whensymptomsdevelop Becauseitisageneticcondition,FHispresentatbirth,meaningmostpeoplewiththisconditionhavehighLDLcholesterollevelsfromayoungage.SincemanypeoplewithFHshownophysicalsymptoms,thisconditionistypicallydiagnosedwithabloodtestforcholesterol.However,somepeoplewithFHmaynotbediagnoseduntilafterexperiencingsymptomsrelatedtoearlyheartdisease,includingchestpainorheartattack. Howit'streated EarlyandactivetreatmentofFHcansubstantiallyreducetheriskforheartdisease.FHtreatmentfocusesonloweringLDLcholesterollevels,andFHisusuallytreatedwithcholesterol-loweringmedications.Lifestylemodifications,includingdiet,exercise,andweightcontrolcanhelplowerLDLcholesterollevels.Butthesechangesaregenerallynotenoughtoeffectivelymanagethecondition.InextremecasesofFH,LDL-apheresis,aprocedurethatfilterscholesteroloutoftheblood,canbeusedwhenothertreatmentshavefailed. Whatdowetest? TestsforonevariantintheAPOBgeneand23variantsintheLDLRgene.ThesevariantsarelinkedtohavingveryhighLDLcholesterollevels,whichisassociatedwithanincreasedriskforheartdisease. GenetictestingforFHinthegeneralpopulationisnotcurrentlyrecommendedbyanyhealthcareprofessionalorganizations. However,theU.S.CDCrecommendsthatscreeningusingcholesteroltestingwithorwithoutDNAanalysisshouldbeconductedonrelativesofpeoplewithfamilialhighcholesterol. HeartdiseaseriskassociatedwithFHvariantsvariesfrompersontoperson.Overallriskdependsonfamilyhistoryandotherfactors. Relevantethnicities ThemajorityofthevariantsincludedinthistestaremostcommonlyfoundinpeopleofEuropeanandLebanesedescent,aswellasintheOldOrderAmish.Inaddition,someofthesevariantshavealsobeenfoundinotherethnicities. However,morethan1,000variantshavebeenlinkedtoFHinpeopleofEuropeandescent,aswellasinpeopleofotherethnicities.Thistestdoesnotincludethemajorityofthosevariants. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Whattoknowabout: G6PDDeficiency andourtest G6PDdeficiencyisacommongeneticconditioncausedbydefectsinanenzymecalledglucose-6-phosphatedehydrogenase,orG6PD.TheG6PDenzymehelpsprotectredbloodcellsfromdamage.InpeoplewithG6PDdeficiency,redbloodcellsaredestroyeduponexposuretocertainenvironmentaltriggers,whichcanleadtoepisodesofanemia.ThistestincludestwocommonvariantslinkedtoG6PDdeficiency. Typicalsignsandsymptoms Anemia Darkurine Fatigue Paleskin Shortnessofbreath Jaundice(yellowingoftheskinandeyes),especiallyinnewborns Otherfactorsthatinfluencerisk Certainmedications Certaininfections Certainfoods Whensymptomsdevelop Becauseitisageneticcondition,G6PDdeficiencyispresentatbirth.However,peoplewiththisconditiontypicallydon'tdevelopsymptomsunlesstheyareexposedtocertaintriggeringfactors.ManypeoplewithG6PDdeficiencyneverdevelopsymptoms. Howit'streated MostpeoplewithG6PDdeficiencydonotrequiretreatment.PeoplewithG6PDdeficiencyoftenmanagetheirconditionbyavoidingcertainmedicationsandfoodsthatmaytriggersymptoms.Ifapersonisexposedtoatriggeranddevelopsanemia,symptomsusuallyclearupontheirown.However,insomecasespatientsmayrequireabloodtransfusion. Whatdowetest? TestsfortheV68MandS188FvariantsintheG6PDgenelinkedtoG6PDdeficiency. GenetictestingforG6PDdeficiencyinadultsinthegeneralpopulationisnotcurrentlyrecommendedbyanyhealthcareprofessionalorganizations. Relevantethnicities TheV68MvariantincludedinthistestismostcommonandbeststudiedinpeopleofAfricandescent.ThisvariantisalsofoundinpeoplewithAfricanancestry,includingpeopleofHispanicorLatinodescent. TheS188FvariantincludedinthistestismostcommonandbeststudiedinpeopleofSouthernEuropean,KurdishJewish,MiddleEastern,CentralAsian,andSouthAsiandescent. ThistestdoesnotincludevariantsthataremorecommoninpeopleofEastandSoutheastAsiandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Whattoknowabout: HereditaryAmyloidosis(TTR-Related) andourtest TTR-relatedhereditaryamyloidosisisageneticconditioncausedbythebuildupofaproteincalledtransthyretin(TTR)inthebody'stissuesandorgans.Thisproteinbuildup,calledamyloidosis,candamagethenerves,theheart,andotherpartsofthebody.ThistestincludesthreeofthemostcommongeneticvariantslinkedtoTTR-relatedhereditaryamyloidosis. Typicalsignsandsymptoms SymptomscanvarywidelydependingonwhichTTRvariantapersonhasandthelocation(s)ofTTRproteinbuildup. Symptomscanvaryevenamongpeoplewiththesamevariant.PeoplewithTTR-relatedhereditaryamyloidosismayexperience: Cardiomyopathy(heartdamage),characterizedbythickeningofthewallsoftheheart,whichcanleadtoheartfailure. Peripheralneuropathy(damagetothenervesthatconnectthespinalcordtotherestofthebody,includingthearmsandlegs),characterizedbysymptomsincludingcarpaltunnelsyndromeaswellastingling,numbness,orburninginthehands,legs,orfeet. Autonomicneuropathy(damagetothenervesthathelpcontroltheinternalorgans),characterizedbysymptomsincludingconstipation,diarrhea,sexualdysfunction,anddizziness. Otherfactorsthatinfluencerisk Age Sex Ethnicity Othergeneticvariants Whensymptomsdevelop TTR-relatedhereditaryamyloidosistypicallydevelopsinadulthood,butageofonsetcanvarywidely.PeoplewiththeV122Ivarianttypicallydevelopsymptomsaftertheageof60.PeoplewiththeV30Mvariantcandevelopsymptomsasearlyastheir20soraslateastheir90s,dependingonethnicityandfamilyhistory.PeoplewiththeT60Avarianttypicallydevelopsymptomsbetween45and80yearsofage. Howit'streated TTR-relatedhereditaryamyloidosisisoftenmanagedbytreatingthesymptomsthroughmedicationsorsurgicalintervention.However,somerecentlyapprovedmedicationsworkbydecreasingtheproductionoftheTTRprotein,whichmakesitlesslikelytobuildupinthebody'stissuesandorgans.Inaddition,mostoftheTTRproteinisproducedintheliver,andlivertransplantshavebeenbeneficialforsomepatients.Scientistsarecurrentlyworkingonothertreatmentoptionsforthiscondition. Whatdowetest? TestsforthreevariantsintheTTRgenelinkedtoTTR-relatedhereditaryamyloidosis. GenetictestingforTTR-relatedhereditaryamyloidosisinthegeneralpopulationisnotcurrentlyrecommendedbyanyhealthcareprofessionalorganizations. Relevantethnicities V122I:MostcommonandbeststudiedinAfricanAmericansandpeopleofWestAfricandescent. V30M:MostcommonandbeststudiedinpeopleofPortuguese,NorthernSwedish,andJapanesedescent. T60A:MostcommonandbeststudiedinpeopleofIrishdescentandalsofoundinpeopleofBritishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Whattoknowabout: HereditaryHemochromatosis(HFE‑Related) andourtest Hereditaryhemochromatosisisageneticconditioncharacterizedbyabsorptionoftoomuchdietaryiron.Thismayleadtoironoverload,whichcancausedamagetothejointsandcertainorgans,suchastheliver,skin,heart,andpancreas.Thistestincludesthetwomostcommonvariantslinkedtothiscondition. Typicalsignsandsymptoms Jointandabdominalpain Fatigueandweakness Darkeningoftheskin Liverdisease Heartdisease Diabetes Otherfactorsthatinfluencerisk Age Sex Alcoholconsumption Diet Whensymptomsdevelop Becauseitisageneticcondition,hereditaryhemochromatosisispresentatbirth.Manypeoplewiththisconditionneverdevelopironoverload.Ofthosewhododevelopironoverload,onlyasmallnumberdevelopsymptoms.Ifmendevelopsymptoms,theytypicallyappearbetween40and60yearsofage.Womenrarelydevelopsymptoms,andwhentheydoittendstobeaftermenopause. Howit'streated Peoplewithhereditaryhemochromatosisaretypicallymonitoredforsymptomsorcomplications.Ironoverloadrelatedtohereditaryhemochromatosisisatreatablecondition.Insomepatients,havingblooddrawnonaregularbasiscanhelplowerironlevels.Peoplewithironoverloadareencouragedtoavoiddrinkingalcoholtominimizeliverdamageandtolimitintakeofiron-richfood. Whatdowetest? TestsfortheC282YandtheH63DvariantsintheHFEgenelinkedtohereditaryhemochromatosis. Genetictestingforhereditaryhemochromatosisisrecommendedundercertaincircumstancesbyseveralhealthprofessionalorganizations,includingtheAmericanAssociationfortheStudyofLiverDiseasesandtheEuropeanAssociationfortheStudyoftheLiver. Relevantethnicities ThevariantsincludedinthistestarebeststudiedinpeopleofEuropeandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Whattoknowabout: HereditaryThrombophilia andourtest Hereditarythrombophiliaisapredispositiontodevelopingharmfulbloodclots.Theseharmfulbloodclotsmostcommonlyforminthelegsandcantraveltothelungs.Thistestincludesthetwomostcommonvariantslinkedtohereditarythrombophilia. Typicalsignsandsymptomsofharmfulbloodclots Pain,tenderness,swelling,orrednessinoneorbothlegs Chestpain Difficultybreathing Hereditarythrombophiliamayalsobeassociatedwithrecurrentlatepregnancylossinsomewomen. Otherriskfactorsforharmfulbloodclots Majorsurgery Age Prolongedimmobility Oralcontraceptives Obesity Whensymptomsdevelop Hereditarythrombophiliaisgenetic,buttheriskofdevelopingharmfulbloodclotsincreaseswithageandotherfactors. Howit'streated Hereditarythrombophiliatypicallydoesnotrequireanyongoingtreatment.Insomecasesmedicationscanbeusedtopreventharmfulbloodclotsfromforming.Medicationsandsurgerycanalsobeusedtobreakupexistingclots. Whatdowetest? TestsfortheFactorVLeidenvariantintheF5geneandtheProthrombinG20210AvariantintheF2genelinkedtohereditarythrombophilia. TestingforgeneticvariantsassociatedwithhereditarythrombophiliaisrecommendedbyACMGundercertaincircumstances.ThistestincludesthetwovariantsrecommendedfortestingbyACMG. Relevantethnicities ThevariantsincludedinthistestaremostcommonandbeststudiedinpeopleofEuropeandescent. ThesevariantsarealsofoundinpopulationswithEuropeanancestry,likeAfricanAmericansandHispanicsorLatinos. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Whattoknowabout: Late-OnsetAlzheimer'sDisease andourtest Alzheimer'sdiseaseischaracterizedbymemoryloss,cognitivedecline,andpersonalitychanges.Late-onsetAlzheimer'sdiseaseisthemostcommonformofAlzheimer'sdisease,developingafterage65.Manyfactors,includinggenetics,caninfluenceaperson'schancesofdevelopingthecondition.Thistestincludesthemostcommongeneticvariantassociatedwithlate-onsetAlzheimer'sdisease. Typicalsignsandsymptoms Memorylossthatworsensovertime Moodandpersonalitychanges Troubleplanningorsolvingproblems Confusionwithplaceortime Difficultyperformingdailylifeactivities Otherfactorsthatinfluencerisk Age Sex Familyhistory Hearthealth Lifestyle Intellectualactivity Whensymptomsdevelop Late-onsetAlzheimer'sdiseasedevelopsafter65yearsofage. Howit'streated ThereiscurrentlynoknownpreventionorcureforAlzheimer'sdisease.Medicationmaybeusedtodelayoreasesymptoms. Whatdowetest? Testsfortheε4variantintheAPOEgeneassociatedwithanincreasedriskofdevelopinglate-onsetAlzheimer'sdisease. Thistestdoesnotidentifyorreportontheε2andε3variantsoftheAPOEgene.ThesevariantsarenotassociatedwithanincreasedriskofdevelopingAlzheimer'sdisease. Genetictestingforlate-onsetAlzheimer'sdiseaseisnotcurrentlyrecommendedbyanyhealthcareprofessionalorganizations. Relevantethnicities Theε4variantincludedinthistestisfoundandhasbeenstudiedinmanyethnicities.DetailedriskestimateshavebeenstudiedthemostinpeopleofEuropeandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Whattoknowabout: MUTYH-AssociatedPolyposis andourtest MUTYH-associatedpolyposis(MAP)isoneofthethreemainhereditarycolorectalcancersyndromes.PeoplewithtwovariantsortwocopiesofavariantintheMUTYHgenetendtodevelopcolonandrectalpolypsandhaveanincreasedriskofdevelopingcolorectalcancer.Theymayalsohaveaslightlyincreasedriskofdevelopingcertainothercancers.ThistestincludestwogeneticvariantsintheMUTYHgenethataremostcommonandbeststudiedinpeopleofNorthernEuropeandescent. Whenitdevelops Mostcolorectalcancersstartasabnormalgrowthsontheinnerliningofthecolonorrectum,calledpolyps.PeoplewithMAPtendtodevelopbetweentenandahundredpolypsbyage50.Thesepolypscanbecomecancerous.However,somepeoplewithMAPmaydevelopcolorectalcancerintheabsenceofcolonorrectalpolyps. Lifetimecancerrisks Withoutappropriatesurveillance,peoplewithtwoMUTYHvariantsortwocopiesofaMUTYHvarianthavea43-100%chanceofdevelopingcolorectalcancerintheirlifetime.Theymayalsohaveaslightlyincreasedriskforcertainothercancers. ScientistsareuncertainastohowhavingoneMUTYHvariantmayinfluenceaperson’scolorectalcancerrisk.Somestudiessuggestedaslightlyincreasedrisk,particularlyifthepersonhasafamilyhistoryofcolorectalcancer. Otherfactorsthatinfluencecancerrisk Age Familyhistory Ethnicity Lifestylefactors Othergeneticfactorsnotincludedinthistest Screeningandprevention ProfessionalguidelinesrecommendthatindividualswithtwoMUTYHvariantsortwocopiesofaMUTYHvariantshouldbescreenedforcolonandrectalpolypsearlierandmoreoften,andundergosurveillanceforsmallbowelpolyps.CurrentU.S.guidelinesrecommendthatindividualswithoneMUTYHvariantfollowcolorectalscreeningrecommendationsforthegeneralpopulation.However,forpeoplewhohavehadafirst-degreerelativewithcolorectalcancerandpeoplewhohaveapersonalhistoryofcolorectalpolyps(regardlessofwhethertheyhaveaMUTYHvariant),theseguidelineshavedifferentrecommendations,whichmayincludescreeningearlierandmoreoftenthanthegeneralpopulation. Whatdowetest? WetestfortheY179CandG396DvariantsintheMUTYHgene.Peoplewithtwovariantsortwocopiesofavarianthaveanincreasedriskofdevelopingcolorectalcancer.Theymayalsohaveaslightlyincreasedriskforcertainothercancers. WedonottestforallpossiblevariantsintheMUTYHgene.Morethan100MUTYHvariantsareknowntoincreasecolorectalcancerrisk. Thistestdoesnotincludevariantsinothergenesthatarelinkedtootherhereditarycolorectalcancersyndromes,suchasLynchsyndromeandfamilialadenomatouspolyposis(FAP). GenetictestingforMUTYHvariantsinthegeneralpopulationisnotcurrentlyrecommendedbyanyhealthcareprofessionalorganizations. CancerriskassociatedwithMUTYHvariantsvariesfrompersontoperson.Overallriskdependsonfamilyhistoryandotherfactors. Relevantethnicities ThevariantsincludedinthistestaremostcommonandbeststudiedinpeopleofNorthernEuropeandescent.However,thesetwovariantshavealsobeenfoundinotherethnicities. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresults fromsequencing.Greaterthan99%oftestresultswerecorrect.Whileunlikely, thistestmayprovidefalsepositiveorfalsenegativeresults.Formore detailsontheanalyticalperformanceofthistest,refertothe packageinsert. Whattoknowabout: Parkinson'sDisease andourtest Parkinson'sdiseaseischaracterizedbytremor,musclestiffness,andproblemswithmovement.Manyfactors,includinggenetics,caninfluenceaperson'schancesofdevelopingParkinson'sdisease.Thistestincludestwogeneticvariantsassociatedwithincreasedriskofdevelopingthecondition. Typicalsignsandsymptoms Tremor Musclestiffness Slowmovements Problemswithbalance Memorylossinsomecases Otherfactorsthatinfluencerisk Age Sex Familyhistory Exposuretocertainchemicals Whensymptomsdevelop Parkinson'sdiseasetypicallydevelopsinadulthood,after55yearsofage. Howit'streated ThereiscurrentlynoknownpreventionorcureforParkinson'sdisease.Certainmedicationsmaybeusedtodelayoreasesymptoms.Speech,physical,andoccupationaltherapiesmayalsohelpwithsymptommanagement. Whatdowetest? TestsfortheG2019SvariantintheLRRK2geneandtheN370SvariantintheGBAgeneassociatedwithanincreasedriskofdevelopingParkinson'sdisease. GenetictestingforParkinson'sdiseaseisnotcurrentlyrecommendedbyanyhealthcareprofessionalorganizations. Relevantethnicities ThevariantsincludedinthistestaremostcommonandbeststudiedinpeopleofEuropean,AshkenaziJewish,andNorthAfricanBerberdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothe packageinsert. Viewsamplereporthere Viewsamplereporthere Viewpackageinserthere Expandcontent 23andMeCarrierStatusTests ThefollowinginformationappliestoCarrierStatusreportsonly. Whatyoushouldknow 23andMeCarrierStatusTests: Whatyoushouldknow Carrierstatustestsdetectgeneticvariantsthatcancause inheritedconditions.Thesevariantsareoften foundprimarilyincertainethnicities. Beingacarriermeansyouhaveonevariantforthecondition. Carrierstypicallydon'thavetheconditionbutcanpassthevarianttotheir children. Knowingyourcarrierstatusisimportantwhenhavingchildren. Ifyouandyourpartnerarebothcarriers,youmayhaveachildwiththecondition. Geneticcounselingcanhelpyouunderstandyourresultsand options.Itisrecommendedbeforetesting,andalsoifyouareacarrier. Expandcontent Shouldyouspeaktoageneticcounselor? Shouldyouspeaktoageneticcounselor? Weencourageyoutolearnmoresoyoucandecidewhethertestingisright foryou.Ageneticcounselor,ahealthcareprofessionalwithspecial trainingingeneticconditions,willbeabletoansweryourspecific questionsandhelpyoumakeaninformeddecision. Geneticcounselorscanhelpyounavigatecommonquestions,suchas: Whataretherisksandbenefitsoftesting? Aretherediseasesthatruninthefamily? Howdoyouhandlepotentiallydistressinginformation? Whatareyouhopingtofindoutfromgenetictesting? Talktoyourhealthcareproviderorclickheretosearchforageneticcounselornear you(thislinktakesyoutoapagemanagedbytheNationalSocietyofGeneticCounselors: http://www.aboutgeneticcounselors.com/). Expandcontent Whattoknowabouttestresults Whattoknowabouttestresults Possibletestresults* 0Variants Youdonothavethevariant(s)wetested.Thereisstillachancethat youcouldhaveavariantnotcoveredbythistest. 1Variant** Youareacarrierandcouldpassthevariantontoeachofyour children. 2Variants*** Youwillmostlikelypassavariantontoeachofyourchildren. Resultnotdetermined Yourresultcouldnotbedetermined. *Forsomereports,acustomermayreceivearesultindicatingthattheyhavetwocopiesofavariant.Inthesecases,thecustomerwillpassavariantontoeachofhisorherchildren. **Forsomereports,customerswithonecopyofavariantwillalsobetoldthattheyareatriskfordevelopingsymptomsofthecondition. ***Forsomereports,customerswithtwovariants(ortwocopiesofavariant)willalsobetoldthattheyareatriskfordevelopingsymptomsofthecondition. Whattodowiththeresults: Haveafamilyhistoryofageneticcondition?Planningtohavechildren? Shareyourresultswithyourdoctoranddiscussfurthertestingoptions. Youcanalsodiscussyourresultswitha geneticcounselor(thislinktakesyoutoapagemanagedbytheNationalSocietyof GeneticCounselorstofindageneticcounselornearyou:http://www.aboutgeneticcounselors.com/). Considersharingyourresultswithrelatives. Yourinformation–aswellasknowingtheirowncarrier status–maybeusefultothem. Expandcontent WhattoknowaboutourCarrierStatusTests WhattoknowaboutourCarrierStatusTests ARSACS AgenesisoftheCorpusCallosumwithPeripheralNeuropathy AutosomalRecessivePolycysticKidneyDisease BetaThalassemiaandRelatedHemoglobinopathies BloomSyndrome CanavanDisease CongenitalDisorderofGlycosylationType1a(PMM2-CDG) CysticFibrosis D-BifunctionalProteinDeficiency DihydrolipoamideDehydrogenaseDeficiency FamilialDysautonomia FamilialHyperinsulinism(ABCC8-Related) FamilialMediterraneanFever FanconiAnemiaGroupC GRACILESyndrome GaucherDiseaseType1 GlycogenStorageDiseaseTypeIa GlycogenStorageDiseaseTypeIb HereditaryFructoseIntolerance HerlitzJunctionalEpidermolysisBullosa(LAMB3-Related) LeighSyndrome,FrenchCanadianType Limb-GirdleMuscularDystrophyType2D Limb-GirdleMuscularDystrophyType2E Limb-GirdleMuscularDystrophyType2I MCADDeficiency MapleSyrupUrineDiseaseType1B MucolipidosisTypeIV NeuronalCeroidLipofuscinosis(CLN5-Related) NeuronalCeroidLipofuscinosis(PPT1-Related) Niemann-PickDiseaseTypeA NijmegenBreakageSyndrome NonsyndromicHearingLossandDeafness,DFNB1(GJB2-Related) PendredSyndromeandDFNB4HearingLoss(SLC26A4-Related) PhenylketonuriaandRelatedDisorders PrimaryHyperoxaluriaType2 PyruvateKinaseDeficiency RhizomelicChondrodysplasiaPunctataType1 SallaDisease SickleCellAnemia Sjögren-LarssonSyndrome Tay-SachsDisease TyrosinemiaTypeI UsherSyndromeType1F UsherSyndromeType3A ZellwegerSyndromeSpectrum(PEX1-Related) SelectaCondition ARSACS AgenesisoftheCorpusCallosumwithPeripheralNeuropathy AutosomalRecessivePolycysticKidneyDisease BetaThalassemiaandRelatedHemoglobinopathies BloomSyndrome CanavanDisease CongenitalDisorderofGlycosylationType1a(PMM2-CDG) CysticFibrosis D-BifunctionalProteinDeficiency DihydrolipoamideDehydrogenaseDeficiency FamilialDysautonomia FamilialHyperinsulinism(ABCC8-Related) FamilialMediterraneanFever FanconiAnemiaGroupC GRACILESyndrome GaucherDiseaseType1 GlycogenStorageDiseaseTypeIa GlycogenStorageDiseaseTypeIb HereditaryFructoseIntolerance HerlitzJunctionalEpidermolysisBullosa(LAMB3-Related) LeighSyndrome,FrenchCanadianType Limb-GirdleMuscularDystrophyType2D Limb-GirdleMuscularDystrophyType2E Limb-GirdleMuscularDystrophyType2I MCADDeficiency MapleSyrupUrineDiseaseType1B MucolipidosisTypeIV NeuronalCeroidLipofuscinosis(CLN5-Related) NeuronalCeroidLipofuscinosis(PPT1-Related) Niemann-PickDiseaseTypeA NijmegenBreakageSyndrome NonsyndromicHearingLossandDeafness,DFNB1(GJB2-Related) PendredSyndromeandDFNB4HearingLoss(SLC26A4-Related) PhenylketonuriaandRelatedDisorders PrimaryHyperoxaluriaType2 PyruvateKinaseDeficiency RhizomelicChondrodysplasiaPunctataType1 SallaDisease SickleCellAnemia Sjögren-LarssonSyndrome Tay-SachsDisease TyrosinemiaTypeI UsherSyndromeType1F UsherSyndromeType3A ZellwegerSyndromeSpectrum(PEX1-Related) Viewsamplereporthere Viewpackageinserthere Whattoknowabout: ARSACS andourtest ARSACSisararegeneticdisordercharacterizedbylossofsensationandmusclecontrol,aswellasmusclestiffnessthatworsensovertime.ApersonmusthavetwovariantsintheSACSgeneinordertohavethiscondition. Typicalsignsandsymptoms Musclestiffnessthatworsensovertime Lossofsensationinhandsandfeetthatworsensovertime Impairedmovementandbalancethatworsensovertime Whensymptomsdevelop Symptomstypicallydevelopduringearlychildhood. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandprovidingsupportivecarethroughspeech,physical,andoccupationaltherapy. Whatdowetest? 1variantintheSACSgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofFrenchCanadiandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: AgenesisoftheCorpusCallosumwithPeripheralNeuropathy andourtest ACCPNisararegeneticdisorder.Itischaracterizedbyanincompleteconnectionbetweenthetwosidesofthebrain.Thiscausesdevelopmentaldisability,weakness,andlossofsensation.ApersonmusthavetwovariantsintheSLC12A6geneinordertohavethiscondition. Typicalsignsandsymptoms Weaknessandsensorylossthatworsensovertime Poororabsentreflexes Tremors Developmentaldisability Shortenedlifespan Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonphysicalandoccupationaltherapyaswellasotherformsofsupportivecareassymptomsworsen,oftenintoadulthood. Whatdowetest? 1variantintheSLC12A6gene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofFrenchCanadiandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: AutosomalRecessivePolycysticKidneyDisease andourtest ARPKDisararegeneticdisorder.Itischaracterizedbykidney,liver,andlungproblemsaswellasurinarytractinfectionsandhighbloodpressure.ApersonmusthavetwovariantsinthePKHD1geneinordertohavethiscondition. Typicalsignsandsymptoms Kidneydisease Liverdisease Respiratoryproblems Highbloodpressure Urinarytractinfections Whensymptomsdevelop Symptomstypicallydevelopbeforebirthorduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingthesymptomsofkidney,lung,andliverdisease,aswellasmanagingbloodpressure. Whatdowetest? 3variantsinthePKHD1gene. ThistestdoesnotincludealargefractionofPKHD1variantsthatcauseARPKDinanyethnicity. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestdoesnotincludealargefractionofPKHD1variantsthatcauseARPKDinanyethnicity. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: BetaThalassemiaandRelatedHemoglobinopathies andourtest Betathalassemiaisageneticdisordercharacterizedbyanemiaandfatigueaswellasbonedeformitiesandorganproblems.ApersonmusthavetwovariantsintheHBBgeneinordertohavethiscondition. Typicalsignsandsymptoms Anemia Fatigue Enlargedliverandspleen Poorgrowthandweightgain Bonedeformities Ironbuildupinmultipleorgans Whensymptomsdevelop Symptomstypicallydevelopanytimefromlateinfancy(severeform)intoadulthood(intermediateform). Howit'streated: Treatmentfocusesonmanagingsymptomsandpreventingcomplications.Someindividualsmayrequirefrequentbloodtransfusions. Whatdowetest? 10variantsintheHBBgene. Symptomsofbetathalassemiamayvarybetweenpeoplewiththeconditiondependingonthevariantsinvolved. CarrierscreeningforbetathalassemiaandrelatedhemoglobinopathiesisrecommendedbyACOGviacompletebloodcountandhemoglobinelectrophoresisforpeopleofAfrican,SoutheastAsian,Mediterranean,MiddleEastern,andWestIndiandescentconsideringhavingchildren. Relevantethnicities: ThistestismostrelevantforpeopleofCypriot,Greek,Italian,andSardiniandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: BloomSyndrome andourtest Bloomsyndromeisararegeneticdisordercharacterizedbyimpairedgrowthandincreasedriskofinfectionsandcancer.ApersonmusthavetwovariantsintheBLMgeneinordertohavethiscondition. Typicalsignsandsymptoms Smallbodysize Recurringinfections Canceratayoungage Sun-sensitiveskin Infertilityinmen Earlymenopauseinwomen Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandpreventingcomplicationssuchasinfectionandcancer. Whatdowetest? 1variantintheBLMgene. SymptomsofBloomsyndromemayvarybetweenpeoplewiththeconditioneveniftheyhavethesamegeneticvariants. CarriertestingforBloomsyndromeisrecommendedbytheAmericanCollegeofMedicalGenetics(ACMG)forpeopleofAshkenaziJewishdescentconsideringhavingchildren.ThistestincludesthevariantrecommendedfortestingbyACMG. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: CanavanDisease andourtest Canavandiseaseisararegeneticdisordercharacterizedbyalossofnervecellfunctioninthebrainthatworsensovertime.ApersonmusthavetwovariantsintheASPAgeneinordertohavethiscondition. Typicalsignsandsymptoms Developmentaldisability Graduallossofmuscletone Seizures Difficultyswallowing Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonpreventingcomplicationsbymonitoringdiet,treatinginfectiousdiseases,andmanagingseizures. Whatdowetest? 3variantsintheASPAgene. CarriertestingforCanavandiseaseisrecommendedbytheAmericanCollegeofMedicalGenetics(ACMG)forpeopleofAshkenaziJewishdescentconsideringhavingchildren.ThistestincludesthetwovariantsrecommendedfortestingbyACMG. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: CongenitalDisorderofGlycosylationType1a(PMM2-CDG) andourtest PMM2-CDGisararegeneticdisorderthataffectsthenervoussystemandotherpartsofthebody.Itischaracterizedbydevelopmentaldelay,muscleweakness,andfailuretogainweight.ApersonmusthavetwovariantsinthePMM2geneinordertohavethiscondition. Typicalsignsandsymptoms Developmentaldelay Muscleweakness Failuretogainweight Smallheadsizeanddistinctfacialfeatures Whensymptomsdevelop Symptomstypicallydevelopininfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonnutritional,occupational,speech,andphysicaltherapy. Whatdowetest? 2variantsinthePMM2gene. Severityofsymptomscanvaryinpeoplewiththisdisorder,evenwhenthesamevariantsareinvolved. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishandDanishdescent. ThistestdoesnotincludealargefractionofPMM2variantsthatcausePMM2-CDGinpeopleofDutchdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: CysticFibrosis andourtest Cysticfibrosisisararegeneticdisordercharacterizedbyimpairedlunganddigestivefunction.ApersonmusthavetwovariantsintheCFTRgeneinordertohavethiscondition. Typicalsignsandsymptoms Chroniccough Lunginfections Pancreaticinsufficiency Malnutrition Infertilityinmales Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandpreventingcomplicationssuchaslunginfectionsandmalnutrition. Whatdowetest? 29variantsintheCFTRgene. Symptomsofcysticfibrosismayvarydependingonthevariantsinvolved. theAmericanCollegeofMedicalGenetics(ACMG)recommendscarriertestingforcysticfibrosisforpeopleofallethnicitiesconsideringhavingchildren.Thistestincludes22of23variantsrecommendedfortestingbyACMG. Relevantethnicities: ThistestismostrelevantforpeopleofEuropean,Hispanic/Latino,andAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: D-BifunctionalProteinDeficiency andourtest DBPDisararegeneticdisorder.Itischaracterizedbyabnormalmuscletone,developmentaldisability,seizures,andearlydeath.ApersonmusthavetwovariantsintheHSD17B4geneinordertohavethiscondition. Typicalsignsandsymptoms Abnormalmuscletone Seizures Developmentaldisability Hearingandvisionloss Distinctivefacialfeatures Earlydeath Whensymptomsdevelop Symptomstypicallydevelopatbirthorduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandpreventingcomplications. Whatdowetest? 2variantsintheHSD17B4gene. ThistestdoesnotincludethemajorityofHSD17B4variantsthatcauseDBPDinanyethnicity. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestdoesnotincludethemajorityofHSD17B4variantsthatcauseDBPDinanyethnicity. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: DihydrolipoamideDehydrogenaseDeficiency andourtest DLDdeficiencyisararegeneticdisorder.Itistypicallycharacterizedbylowmuscletoneandepisodesofbraininjuryaccompaniedbyliverdisease.ApersonmusthavetwovariantsintheDLDgeneinordertohavethiscondition. Typicalsignsandsymptoms Buildupoflacticacidinthebody Episodesofbraininjury Developmentaldisabilities Decreasedmuscletone Liverdisease Abdominalpainandvomiting Whensymptomsdevelop Symptomscandevelopanytimefrominfancytoadulthood Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmaintainingastablemetabolicstatethroughdiet.Bloodtestscanbeusedforroutinemonitoringandtoguidedietaryrecommendations. Whatdowetest? 1variantintheDLDgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: FamilialDysautonomia andourtest Familialdysautonomiaisararegeneticdisorderthataffectsmanydifferentpartsofthebody.Itischaracterizedbyseveredysfunctionindifferentpartsofthenervoussysteminvolvedinmovement,thesenses,andinvoluntary(autonomic)functions.ApersonmusthavetwovariantsintheELP1geneinordertohavethiscondition. Typicalsignsandsymptoms Episodesofinvoluntarynerveimpairment Motorandsensorynerveimpairment Poorgrowth Developmentaldelay Whensymptomsdevelop Symptomsaretypicallypresentatbirth. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingnervedysfunctionbyprovidingmedicationsandsupportivecare. Whatdowetest? 1variantintheELP1gene. CarriertestingforfamilialdysautonomiaisrecommendedbytheAmericanCollegeofMedicalGenetics(ACMG)forpeopleofAshkenaziJewishdescentconsideringhavingchildren.ThistestincludesoneoftwovariantsrecommendedfortestingbyACMG. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: FamilialHyperinsulinism(ABCC8-Related) andourtest ABCC8-relatedfamilialhyperinsulinismisararegeneticdisorder.Itischaracterizedbyveryhighlevelsofinsulinproduction.Thisleadstoepisodesoflowbloodsugar,whichcancauselowenergy,seizures,andbraindamageifleftuntreated.PeoplewithABCC8-relatedfamilialhyperinsulinismmostoftenhavetwovariantsintheABCC8gene. Typicalsignsandsymptoms Highlevelsofinsulin Lowbloodsugar Lowenergy Irritability Seizures Braindamage Whensymptomsdevelop Symptomstypicallydevelopduringinfancyorinearlychildhood. Howit'streated: Thereiscurrentlynoknowncure.Treatmentdependsontheseverityofthecondition.Somepeoplecanmaintainhealthybloodglucoselevelsthroughmedicationordiet.Otherpeoplemayrequiresurgerytoremovepartofthepancreas. Whatdowetest? 3variantsintheABCC8gene. Symptomsoffamilialhyperinsulinismmayvarybetweenpeoplewiththeconditioneveniftheyhavethesamegeneticvariants. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition.However,theAmericanCollegeofObstetriciansandGynecologists(ACOG)notesthattestingforfamilialhyperinsulinismmaybeconsideredforpeopleofAshkenaziJewishdescentwhoareconsideringhavingchildren. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: FamilialMediterraneanFever andourtest FamilialMediterraneanfever(FMF)isageneticdisorder.Itischaracterizedbyrecurringshortepisodesoffever,aswellasinflammationintheabdomen,chest,andjoints.Insomecases,theremaybeabnormalproteinbuildupinthekidneys.PeoplewithFMFmostoftenhavetwovariantsintheMEFVgene. Typicalsignsandsymptoms Periodicepisodesoffever Inflammationintheabdomen,chest,andjoints Skinrash Abnormalproteinbuildupinthekidneys Whensymptomsdevelop FMFcandevelopanytimefromearlychildhoodtoadulthood.Formostpeoplewiththecondition,thefirstepisodeoccursbeforetheageof20. Howit'streated: Duringafeverepisode,anti-inflammatorydrugsmaybeusedtomanagefeverandinflammation.Inaddition,medicationcanbeprescribedbydoctorstopreventfeverattacksandkidneydamage,especiallyforpeoplewhohavetheM694Vvariant. Whatdowetest? 7variantsintheMEFVgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. SymptomsofFMFmayvarybetweenpeoplewiththeconditioneveniftheyhavethesamegeneticvariants. Insomecases,peoplewithonlyasingleMEFVvariantcanexperiencesymptomsofFMF.Inaddition,somestudieshaveidentifiedindividualswhomeetclinicalcriteriaforFMFbutdonothaveanyMEFVvariants. Relevantethnicities: ThistestismostrelevantforpeopleofArab,Armenian,SephardicJewish,andTurkishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: FanconiAnemiaGroupC andourtest FanconianemiagroupCisararegeneticdisorder.Itischaracterizedbyadecreasedproductionofbloodcells,birthdefects,andanincreasedriskofinfectionsandcancer.ApersonmusthavetwovariantsintheFANCCgeneinordertohavethiscondition. Typicalsignsandsymptoms Skeletalandorganmalformationsatbirth Increasedriskofcancer Frequentinfections Decreasedbloodcellproduction Veryshortheight Areasoflighterordarkerskincolor Whensymptomsdevelop Symptomscandevelopanytimefrombirthtoadulthood. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonincreasingthenumberofbloodcells,managingdisabilities,andscreeningforcancer.Stemcelltransplantsmaycorrectbloodcellproblemsinsomecases. Whatdowetest? 3variantsintheFANCCgene. CarriertestingforFanconianemiagroupCisrecommendedbytheAmericanCollegeofMedicalGenetics(ACMG)forpeopleofAshkenaziJewishdescentconsideringhavingchildren.ThistestincludestheonevariantrecommendedfortestingbyACMG. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: GRACILESyndrome andourtest GRACILEsyndromeisararegeneticdisorder.Itischaracterizedbyimpairedgrowthbeforebirth,ironbuildup,liverdamage,anddeathininfancy.ApersonmusthavetwovariantsintheBCS1Lgeneinordertohavethiscondition. Typicalsignsandsymptoms Smallsizeatbirth Poorgrowthandweightgain Ironbuildupintheliver Buildupoflacticacidinthebody Kidneyandliverproblems Deathininfancy Whensymptomsdevelop Symptomstypicallydevelopbeforebirth. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandultimatelyprovidingend-of-lifesupportivecare. Whatdowetest? 1variantintheBCS1Lgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofFinnishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: GaucherDiseaseType1 andourtest Gaucherdiseasetype1isararegeneticdisorderthatcanaffectmanyorgans.Itoftenleadstoanenlargedliverandspleen,aswellasboneabnormalities.ApersonmusthavetwovariantsintheGBAgene,ortwocopiesofavariant,inordertohaveGaucherdiseasetype1. Typicalsignsandsymptoms Enlargementoftheliverandspleen Boneweaknessandpain Growthimpairment Anemiaandlowplateletcount Whensymptomsdevelop Symptomscandevelopanytimefromchildhoodtoadulthoodandcanvaryfrommildtosevere.Somepeoplemayneverdevelopsymptoms. Howit'streated: Thereiscurrentlynoknowncure.Treatmentvariesdependingontheseverityofsymptoms,butoftenincludesenzymereplacementtherapy. Whatdowetest? 3variantsintheGBAgene. Theseverityofsymptoms,andwhentheydevelop,canvarygreatlyinpeoplewithGaucherdiseasetype1.Somepeoplemayneverdevelopsymptoms. The84GGandV394Lvariantscanoccasionallybefoundinpeoplewiththemoresevere,type2ortype3formsofGaucherdisease.PeoplewithtwocopiesoftheN370Svariant,oronecopyofN370Sandonecopyofanothervariant,typicallyhavethelesssevere,type1formofthedisease. CarriertestingforGaucherdiseasetype1isrecommendedbytheAmericanCollegeofMedicalGenetics(ACMG)forpeopleofAshkenaziJewishdescentconsideringhavingchildren.ThistestincludestwooffourvariantsrecommendedfortestingbyACMG. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: GlycogenStorageDiseaseTypeIa andourtest GSDIaisararegeneticdisorder.Itischaracterizedbylowbloodsugar,liverandkidneyproblems,andpoorgrowth.ApersonmusthavetwovariantsintheG6PCgeneinordertohavethiscondition. Typicalsignsandsymptoms Lowbloodsugar Liverenlargement Veryshortheight Kidneyandliverproblems Anemia Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingdiettocontrolbloodsugarlevelsandpreventproblemswithmetabolism. Whatdowetest? 1variantintheG6PCgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition.However,theAmericanCollegeofObstetriciansandGynecologists(ACOG)notesthattestingforglycogenstoragediseasetypeImaybeconsideredforpeopleofAshkenaziJewishdescentwhoareconsideringhavingchildren. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: GlycogenStorageDiseaseTypeIb andourtest GSDIbisararegeneticdisorder.Itischaracterizedbylowbloodsugar,liverandkidneyproblems,andfrequentinfections.ApersonmusthavetwovariantsintheSLC37A4geneinordertohavethiscondition. Typicalsignsandsymptoms Lowbloodsugar Liverenlargement Kidneyandliverproblems Frequentinfections Veryshortheight Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingdietinordertocontrolbloodsugarlevelsandpreventproblemswithmetabolism.Medicationcanhelppreventinfections. Whatdowetest? 2variantsintheSLC37A4gene. ThistestdoesnotincludethemajorityofSLC37A4variantsthatcauseGSDIbinanyethnicity. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestdoesnotincludethemajorityofSLC37A4variantsthatcauseGSDIbinanyethnicity. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: HereditaryFructoseIntolerance andourtest Hereditaryfructoseintoleranceisararegeneticdisorder.Itischaracterizedbylowbloodsugarlevels,stomachpain,andvomitingaftereatingfructose.ApersonmusthavetwovariantsintheALDOBgeneinordertohavethiscondition. Typicalsignsandsymptoms Nauseaandvomiting Lowbloodsugar Stomachpain Failuretogainweight Liverdisease Kidneydisease Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Maintainingafructose-freedietmayreduceorpreventsymptoms. Whatdowetest? 4variantsintheALDOBgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofEuropeandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: HerlitzJunctionalEpidermolysisBullosa(LAMB3-Related) andourtest LAMB3-relatedJEBisararegeneticdisorder.TheHerlitzformischaracterizedbysevereblisteringoftheskinandmucousmembranesand,typically,deathininfancy.ApersonmusthavetwovariantsintheLAMB3geneinordertohavethiscondition. Typicalsignsandsymptoms Fragileskinandmucousmembranes Severeblistering Recurrentinfections Difficultyswallowing,speaking,andbreathing Whensymptomsdevelop SymptomsofHerlitzJEBaretypicallypresentatbirth. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonprotectingtheskin,woundcare,andmanaginginfectionsandothercomplications. Whatdowetest? 3variantsintheLAMB3gene. ThistestdoesnotincludethemajorityofLAMB3variantsthatcauseLAMB3-relatedJEBinanyethnicity. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestdoesnotincludethemajorityofLAMB3variantsthatcauseLAMB3-relatedJEBinanyethnicity. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: LeighSyndrome,FrenchCanadianType andourtest LSFCisararegeneticdisorder.Itischaracterizedbylife-threateningperiodsoflacticacidbuildupandbraininjuryaswellasfailuretogainweight.ApersonmusthavetwovariantsintheLRPPRCgeneinordertohavethiscondition. Typicalsignsandsymptoms Buildupoflacticacidinthebody Episodesofbraininjury Failuretogainweight Poormusclecontrolandmusclespasms Distinctivefacialfeatures Earlydeath Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonprovidingnutritionalsupport,managingsymptoms,andpreventingcomplications. Whatdowetest? 1variantintheLRPPRCgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofFrenchCanadiandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: Limb-GirdleMuscularDystrophyType2D andourtest LGMD2Disararegeneticdisorder.Itischaracterizedbymuscleweaknessthatworsensovertimeaswellasheartandlungproblems.ApersonmusthavetwovariantsintheSGCAgeneinordertohavethiscondition. Typicalsignsandsymptoms Wastingofarmandlegmusclesclosesttothetorso Largecalfmuscles Curvatureofthespine Heartandlungproblems Shortenedlifespan Whensymptomsdevelop Symptomstypicallydevelopbetweenearlychildhoodandadolescence. Howit'streated: Thereiscurrentlynoknowncure.Therapyfocusesonmaintainingmusclefunction,preventingskeletalproblems,andmonitoringheartandlungfunction. Whatdowetest? 1variantintheSGCAgene. Symptomscanvarygreatlyinpeoplewiththiscondition,andcanbemildinsomecases. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestisexpectedtoidentifythemajorityofcarriersofFinnishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: Limb-GirdleMuscularDystrophyType2E andourtest LGMD2Eisararegeneticdisorder.Itischaracterizedbymuscleweaknessthatworsensovertimeaswellasheartandlungproblems.ApersonmusthavetwovariantsintheSGCBgeneinordertohavethiscondition. Typicalsignsandsymptoms Wastingofarmandlegmusclesclosesttothetorso Largecalfmuscles Curvatureofthespine Heartandlungproblems Shortenedlifespan Whensymptomsdevelop Symptomstypicallydevelopbetweenearlychildhoodandadolescence. Howit'streated: Thereiscurrentlynoknowncure.Therapyfocusesonmaintainingmusclefunction,preventingskeletalproblems,andmonitoringheartandlungfunction. Whatdowetest? 1variantintheSGCBgene. Symptomscanvarygreatlyinpeoplewiththiscondition,andcanbemildinsomecases. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofSouthernIndianaAmishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: Limb-GirdleMuscularDystrophyType2I andourtest LGMD2Iisararegeneticdisorder.Itischaracterizedbymuscleweaknessthatworsensovertimeaswellasheartandlungproblems.ApersonmusthavetwovariantsintheFKRPgeneinordertohavethiscondition. Typicalsignsandsymptoms Wastingofarmandlegmusclesclosesttothetorso Heartandlungproblems Largecalfmuscles Curvatureofthespine Shortenedlifespan Whensymptomsdevelop Symptomstypicallydevelopbetweenearlychildhoodandearlyadulthood. Howit'streated: Thereiscurrentlynoknowncure.Therapyfocusesonmaintainingmusclefunction,preventingskeletalproblems,andmonitoringheartandlungfunction. Whatdowetest? 1variantintheFKRPgene. Symptomscanvarygreatlyinpeoplewiththiscondition,andcanbemildinsomecases. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestisexpectedtoidentifythemajorityofcarriersofEuropeandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: MCADDeficiency andourtest MCADdeficiencyisararegeneticdisordercharacterizedbyepisodesofverylowbloodsugarwhilefastingorunderstress.ApersonmusthavetwovariantsintheACADMgeneinordertohavethiscondition. Typicalsignsandsymptoms Severelylowbloodsugar Fatigue Vomiting Seizures Liverproblems Whensymptomsdevelop Symptomstypicallydevelopduringinfancyorearlychildhood. Howit'streated: Thereiscurrentlynoknowncure.Earlydiagnosis,avoidingfasting,andmakingcertaindietmodificationscanhelplimitsymptomsandpreventcomplications. Whatdowetest? 4variantsintheACADMgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofEuropeandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: MapleSyrupUrineDiseaseType1B andourtest MSUD1Bisararegeneticdisorder.Itischaracterizedbypoorgrowthandfeeding,slowedmentalandphysicalprocesses,andurinewithadistinct,sweetodor.ApersonmusthavetwovariantsintheBCKDHBgeneinordertohavethiscondition. Typicalsignsandsymptoms Sweet-smellingurine Poorfeedingandgrowth Lethargy Developmentaldelay Comaanddeathifuntreated Whensymptomsdevelop Symptomstypicallydevelopduringinfancyorinearlychildhood. Howit'streated: Thereiscurrentlynoknowncure.Strictdietmanagement,andinsomecaseslivertransplantation,mayreducesymptomsandsloworstopdiseaseprogression. Whatdowetest? 2variantsintheBCKDHBgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition.However,theAmericanCollegeofObstetriciansandGynecologists(ACOG)notesthattestingformaplesyrupurinediseasemaybeconsideredforpeopleofAshkenaziJewishdescentwhoareconsideringhavingchildren. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: MucolipidosisTypeIV andourtest MucolipidosisIVisararegeneticdisordercharacterizedbydevelopmentaldelayandgradualvisionlossinchildhood.ApersonmusthavetwovariantsintheMCOLN1geneinordertohavethiscondition. Typicalsignsandsymptoms Developmentaldisability Visionimpairmentthatworsensovertime Decreasedmuscletone Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandprovidingsupportivecarethroughspeech,physical,andoccupationaltherapy. Whatdowetest? 1variantintheMCOLN1gene. CarriertestingformucolipidosisIVisrecommendedbytheAmericanCollegeofMedicalGenetics(ACMG)forpeopleofAshkenaziJewishdescentconsideringhavingchildren.ThistestincludesoneoftwovariantsrecommendedfortestingbyACMGanddoesnotincludethesecondmostcommonvariantfoundinpeopleofAshkenaziJewishdescent. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. ThistestdoesnotincludethesecondmostcommonvariantfoundinpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: NeuronalCeroidLipofuscinosis(CLN5-Related) andourtest CLN5-relatedNCLisararegeneticdisorder.Itischaracterizedbyseizures,visionloss,andintellectualdisability.ApersonmusthavetwovariantsintheCLN5geneinordertohavethisformofNCL. Typicalsignsandsymptoms Intellectualdecline Seizures Lossofabilitytocontrolmuscles Musclespasms Visionlossleadingtoblindness Shortenedlifespan Whensymptomsdevelop Symptomstypicallydevelopinearlychildhood. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptoms,providingphysicaltherapy,andusingseizuremedicationsasneeded. Whatdowetest? 1variantintheCLN5gene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofFinnishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: NeuronalCeroidLipofuscinosis(PPT1-Related) andourtest PPT1-relatedNCLisararegeneticdisorder.Itischaracterizedbyseizures,visionloss,andintellectualdisability.ApersonmusthavetwovariantsinthePPT1geneinordertohavethisformofNCL. Typicalsignsandsymptoms Intellectualdecline Seizures Lossofabilitytocontrolmuscles Musclespasms Visionlossleadingtoblindness Deathinchildhood Whensymptomsdevelop Symptomstypicallydevelopduringinfancyorinearlychildhood. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptoms,providingphysicaltherapy,andusingseizuremedicationsasneeded. Whatdowetest? 3variantsinthePPT1gene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofFinnishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: Niemann-PickDiseaseTypeA andourtest Niemann-PickdiseasetypeAisararegeneticdisorder.Itischaracterizedbyanenlargedliverandspleen,developmentaldisability,recurringlunginfections,andearlydeath.ApersonmusthavetwovariantsintheSMPD1geneinordertohavethiscondition. Typicalsignsandsymptoms Enlargedliverandspleen Severedevelopmentaldisability Recurringlunginfections Poorweightgain Deathinearlychildhood Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandpreventingcomplicationsthroughphysicalandoccupationaltherapy. Whatdowetest? 3variantsintheSMPD1gene. CarriertestingforNiemann-PickdiseasetypeAisrecommendedbytheAmericanCollegeofMedicalGenetics(ACMG)forpeopleofAshkenaziJewishdescentconsideringhavingchildren.ThistestincludesthethreevariantsrecommendedfortestingbyACMG. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: NijmegenBreakageSyndrome andourtest Nijmegenbreakagesyndromeisararegeneticdisorder.Itischaracterizedbydevelopmentaldelay,recurringinfections,andanincreasedriskofcancer.ApersonmusthavetwovariantsintheNBNgeneinordertohavethiscondition. Typicalsignsandsymptoms Smallheadsize Developmentaldelay Recurringinfections Increasedriskforcancer Whensymptomsdevelop Symptomstypicallydevelopbeforebirth. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandpreventingcomplicationssuchasinfectionandcancer. Whatdowetest? 1variantintheNBNgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestisexpectedtoidentifythemajorityofcarriersinpeopleofEasternEuropeandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: NonsyndromicHearingLossandDeafness,DFNB1(GJB2-Related) andourtest DFNB1isaninheritedconditioncharacterizedbymildtoseverehearinglossthatispresentfrombirth.PeoplewithGJB2-relatedDFNB1mostoftenhavetwovariantsintheGJB2gene. Typicalsignsandsymptoms Mildtoprofoundhearinglossatbirth Whensymptomsdevelop Symptomsaretypicallypresentatbirth. Howit'streated: Thereiscurrentlynoknowncure.Treatmentoptionsincludehearingaids,cochlearimplants,andeducationalprogramsforpeoplewithhearingloss. Whatdowetest? 2variantsintheGJB2gene. Theseverityofhearinglosscanvary,buttherearenoothersymptomsassociatedwiththiscondition. MostpeoplewithDFNB1havetwovariantsintheGJB2gene.However,somepeoplewiththeconditionhaveonevariantintheGJB2geneandasecondvariantnottested(adeletion)intheGJB6gene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishandEuropeandescent. ThistestdoesnotincludethemajorityofGJB2variantsthatcauseDFNB1inpeopleofEastAsiandescentanddoesnotincludemanyoftheGJB2variantsthatcauseDFNB1inpeopleofSouthAsiandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: PendredSyndromeandDFNB4HearingLoss(SLC26A4-Related) andourtest PendredsyndromeandDFNB4areinheritedconditionscharacterizedbydeafnessandstructuralproblemswiththeinnerear.Pendredsyndromeissometimescharacterizedbyanenlargedthyroid.PeoplewithPendredsyndromeorDFNB4mostoftenhavetwovariantsintheSLC26A4gene. Typicalsignsandsymptoms Hearinglossatbirthorinearlychildhood Abnormalinnereardevelopment Enlargedthyroid Poorbalance Whensymptomsdevelop Symptomstypicallydevelopatbirthorduringchildhood. Howit'streated: Thereiscurrentlynoknowncure.Earlyinterventionisrecommendedtoteachalternativecommunicationskills.Hearingaidsorcochlearimplantsmaytreathearingloss.Medicationcantreatlowthyroidhormonelevels. Whatdowetest? 6variantsintheSLC26A4gene. SymptomsofPendredsyndromeandDFNB4varyinseveritydependingonwhichvariantsarecausingthecondition. ThistestdoesnotincludealargefractionofSLC26A4variantsthatcausePendredsyndromeorDFNB4inanyethnicity. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingfortheseconditions. Relevantethnicities: ThistestdoesnotincludealargefractionofSLC26A4variantsthatcausePendredsyndromeorDFNB4inanyethnicity. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: PhenylketonuriaandRelatedDisorders andourtest PKUispartofaspectrumofrelatedgeneticdisorders.Thesedisordersarecharacterizedbyintellectualdisability,seizures,andskinproblems.ApersonmusthavetwovariantsinthePAHgeneinordertohaveoneofthesedisorders. Typicalsignsandsymptoms Intellectualdisability Seizures Behavioralproblems Eczema Whensymptomsdevelop Symptomstypicallydevelopsoonafterbirth. Howit'streated: Thereiscurrentlynoknowncure.DietmanagementthroughoutlifemayhelpreducecommonPKUsymptoms.Forsomepeople,useofmedicationcanpreventphenylalaninelevelsfrombecomingtoohigh. Whatdowetest? 23variantsinthePAHgene. PKUandrelateddisorderscanbemanagedwithappropriatetreatment. Symptomsofthesedisordersvaryinseveritydependingonwhichvariantsarecausingthecondition. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingfortheseconditions. Relevantethnicities: ThistestismostrelevantforpeopleofNorthernEuropeandescent,particularlythoseofIrishancestry. ThistestdoesnotincludealargefractionofPAHvariantsthatcausePKUandrelateddisordersinpeopleofotherethnicities. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: PrimaryHyperoxaluriaType2 andourtest PH2isararegeneticdisorder.Itischaracterizedbyfrequentkidneystonesthatcanleadtokidneyfailureifleftuntreated.ApersonmusthavetwovariantsintheGRHPRgeneinordertohavethiscondition. Typicalsignsandsymptoms Frequentkidneystones Kidneyfailureifuntreated Whensymptomsdevelop Symptomstypicallydevelopduringchildhood. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingoxalatelevelsandhydrationinordertoslowthedevelopmentofkidneydisease.Kidneytransplantationisconsideredinsomecases. Whatdowetest? 1variantintheGRHPRgene. ThistestdoesnotincludealargefractionofGRHPRvariantsthatcausePH2. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestisexpectedtoidentifythemajorityofcarriersinpeopleofEuropeandescent. ThistestdoesnotincludethemostcommonvariantfoundinpeopleofAsiandescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: PyruvateKinaseDeficiency andourtest Pyruvatekinase(PK)deficiencyisararegeneticdisorderinwhichredbloodcellsbreakdowntooquickly,leadingtochronicanemia.ApersonmusthavetwovariantsinthePKLRgene,ortwocopiesofavariant,inordertohavethiscondition. Typicalsignsandsymptoms Chronicanemia Extremefatigueanddifficultyexercising Jaundice(yellowingoftheskinandeyes) Cognitivedifficultiessuchasdifficultyconcentrating Enlargedspleen Ironoverload Gallstones Whensymptomsdevelop Symptomscandevelopanytimefrombeforebirthtoadulthoodandcanvaryfrommildtosevere.Symptomsmayworsenwithage. Howit'streated: Thereiscurrentlynoknowncure.Treatmentdependsontheseverityofthesymptomsandmayincludebloodtransfusions,medicationstoremoveexcessironfromtheblood,andremovalofthespleenandgallbladder.Innewborns,phototherapy(lighttherapy)isoftenusedtotreatjaundice.MedicationsthatincreasetheactivityofthePKenzymeinredbloodcellsarealsoindevelopment,asawaytotreattheunderlyingcauseofthecondition. Whatdowetest? 1variantinthePKLRgene. SymptomsofPKdeficiencymayvarywidelyamongpeoplewiththecondition. ThistestdoesnotincludethemajorityofPKLRvariantsthatcausePKdeficiencyinanyethnicity. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestdoesnotincludethemajorityofPKLRvariantsthatcausePKdeficiencyinanyethnicity. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: RhizomelicChondrodysplasiaPunctataType1 andourtest RCDP1isararegeneticdisorder.Itischaracterizedbyboneabnormalities,cataracts,andintellectualdisability.ApersonmusthavetwovariantsinthePEX7geneinordertohavethiscondition. Typicalsignsandsymptoms Skeletalproblems Childhoodcataracts Intellectualdisability Frequentlunginfections Whensymptomsdevelop Symptomsaretypicallypresentatbirthordevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandprovidingsupportivecarethroughphysicaltherapy.Treatmentmayincludecataractremoval. Whatdowetest? 1variantinthePEX7gene. ThistestdoesnotincludealargefractionofPEX7variantsthatcauseRCDP1inanyethnicity. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestdoesnotincludealargefractionofPEX7variantsthatcauseRCDP1inanyethnicity. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: SallaDisease andourtest Salladiseaseisararegeneticdisorder.Itischaracterizedbyagraduallossofmuscletoneandcoordination,aswellasimpairedgrowth,intellectualdisability,andseizures.ApersonmusthavetwovariantsintheSLC17A5geneinordertohavethiscondition. Typicalsignsandsymptoms Intellectualdisability Lossofmuscletoneandcoordinationovertime Seizures Whensymptomsdevelop Symptomstypicallydevelopduringinfancyorchildhood. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingseizuresandprovidingsupportivecarethroughspeech,physical,andoccupationaltherapy. Whatdowetest? 1variantintheSLC17A5gene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofFinnishandSwedishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: SickleCellAnemia andourtest Sicklecellanemiaisageneticdisordercharacterizedbyanemia,episodesofpain,andfrequentinfections.ApersonmusthavetwoHbSvariantsintheHBBgeneinordertohavethiscondition. Typicalsignsandsymptoms Anemia Fatigue Episodesofpain Frequentinfections Stroke Injurytomultipleorgans Whensymptomsdevelop Symptomstypicallydevelopbyearlychildhood. Howit'streated: Treatmentfocusesonmanagingpainandpreventingcomplications.Certainmedicationsorbloodtransfusionsmayimprovesymptoms. Whatdowetest? 1variantintheHBBgene. CarrierscreeningforhemoglobinopathiessuchassicklecellanemiaisrecommendedbytheAmericanCongressofObstetriciansandGynecologists(ACOG)viacompletebloodcountandhemoglobinelectrophoresisforpeopleofAfrican,SoutheastAsian,Mediterranean,MiddleEastern,andWestIndiandescentconsideringhavingchildren. Relevantethnicities: ThistestismostrelevantforpeopleofAfricandescent,becausetheHbSvariantismostcommoninpeoplewithAfricanancestry. Inaddition,becausethistestcoverstheonlyvariantthatcausessicklecellanemia,itisalsorelevantforotherethnicitiesinwhichtheHbSvariantisfound,includingpeopleofMiddleEasternandSouthAsiandescent,aswellaspeoplefromtheCaribbean,theMediterranean,andpartsofCentralandSouthAmerica. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: Sjögren-LarssonSyndrome andourtest Sjögren-Larssonsyndromeisararegeneticdisorder.Itischaracterizedbyscalydryskin,intellectualdisability,andpersistentmusclestiffness.ApersonmusthavetwovariantsintheALDH3A2geneinordertohavethiscondition. Typicalsignsandsymptoms Dryscalyskin Persistentmusclestiffness Intellectualdisability Whensymptomsdevelop Symptomstypicallydevelopininfancyorearlychildhood. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandprovidingsupportivecarethroughspeechandphysicaltherapyaswellasskincare. Whatdowetest? 1variantintheALDH3A2gene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofSwedishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: Tay-SachsDisease andourtest Tay-Sachsdiseaseisararegeneticdisorder.Itischaracterizedbyalossofstrengthandcoordinationovertimeaswellasdevelopmentaldisability,seizures,andearlydeath.ApersonmusthavetwovariantsintheHEXAgeneinordertohavethiscondition. Typicalsignsandsymptoms Lossofstrengthandcoordinationthatworsensovertime Severedevelopmentaldisability Visionloss Seizures Deathinearlychildhoodinseverecases Whensymptomsdevelop Symptomstypicallydevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptoms,providingnutritionalsupport,andusingseizuremedicationsasneeded. Whatdowetest? 4variantsintheHEXAgene. Symptomsofthisdisordervaryinseveritydependingonwhichvariantsarecausingthecondition. CarriertestingforTay-SachsdiseaseisrecommendedbytheAmericanCollegeofMedicalGeneticsandGenomics(ACMG)andtheAmericanCollegeofObstetriciansandGynecologists(ACOG)forpeopleofAshkenaziJewishdescentconsideringhavingchildren.ThistestincludesthethreevariantsrecommendedfortestingbyACMG.Inaddition,ACOGrecommendsofferingcarriertestingforTay-SachsdiseasetoindividualsofCajunandFrenchCanadiandescentwhoareconsideringhavingchildren. WhencarriertestingforTay-SachsdiseaseisindicatedinpeoplewhoarenotofAshkenaziJewishdescent,ACMGrecommendsbiochemicalcarrierscreeningasafirststep.Genetictestingcanthenbeusedtoconfirmcarrierstatusinpeoplewithapositiveresult. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishandCajundescent. ThistestdoesnotincludethemostcommonvariantfoundinpeopleofFrenchCanadiandescentwithTay-Sachsdisease. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: TyrosinemiaTypeI andourtest TyrosinemiatypeIisararegeneticdisorder.Itischaracterizedbyhighlevelsoftheaminoacidtyrosinethatcanleadtoliverandkidneydisease.ApersonmusthavetwovariantsintheFAHgeneinordertohavetyrosinemiatypeI. Typicalsignsandsymptoms Highlevelsoftyrosineintheblood Liverandkidneyproblems Growthdelay Episodesofpain,weakness,andmentaldistress Increasedriskoflivercancer Whensymptomsdevelop Symptomstypicallydevelopduringinfancyorinchildhood. Howit'streated: Thereiscurrentlynoknowncure.Medicationandalowproteindietmaydecreaseliverandkidneydamage.Livertransplantationisconsideredinsomecases. Whatdowetest? 4variantsintheFAHgene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestismostrelevantforpeopleofFrenchCanadianandFinnishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: UsherSyndromeType1F andourtest Usher1Fisararegeneticdisorder.Itischaracterizedbydeafnessatbirth,poorbalance,andvisionlossthatworsensovertime.ApersonmusthavetwovariantsinthePCDH15geneinordertohavethiscondition. Typicalsignsandsymptoms Deafnessinbothearsatbirth Lossofvisionbeginninginchildhood Poorbalance Delaysinwalking Whensymptomsdevelop Symptomstypicallydevelopatbirth. Howit'streated: Thereiscurrentlynoknowncure.Deafnessmaybetreatedwithcochlearimplants.Visionlossmaybemonitoredwithroutineeyeexams.Earlyinterventionisrecommendedtoteachalternativecommunicationskills. Whatdowetest? 1variantinthePCDH15gene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition.However,theAmericanCollegeofObstetriciansandGynecologists(ACOG)notesthattestingforUshersyndromemaybeconsideredforpeopleofAshkenaziJewishdescentwhoareconsideringhavingchildren. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: UsherSyndromeType3A andourtest Usher3Aisararegeneticdisorder.Itischaracterizedbyhearingandvisionlossthatbeginsinlatechildhoodandworsensovertime.ApersonmusthavetwovariantsintheCLRN1geneinordertohavethiscondition. Typicalsignsandsymptoms Hearinglossinchildhoodorearlyteens Gradualvisionloss Nightblindnessbymid-teens Blindnessbymid-adulthood Whensymptomsdevelop Symptomstypicallydevelopduringlatechildhoodoradolescence. Howit'streated: Thereiscurrentlynoknowncure.Hearinglossmaybetreatedwithhearingaids.Visionlossmaybemonitoredwithroutineeyeexams.Earlyinterventionisrecommendedtoteachalternativecommunicationskills. Whatdowetest? 1variantintheCLRN1gene. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition.However,theAmericanCollegeofObstetriciansandGynecologists(ACOG)notesthattestingforUshersyndromemaybeconsideredforpeopleofAshkenaziJewishdescentwhoareconsideringhavingchildren. Relevantethnicities: ThistestismostrelevantforpeopleofAshkenaziJewishdescent. ThistestdoesnotincludevariantscommonlyfoundinpeopleofFinnishdescentwithUsher3A. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Whattoknowabout: ZellwegerSyndromeSpectrum(PEX1-Related) andourtest ZSSisagroupofraregeneticdisorders.TheformofZSScoveredbythisreportischaracterizedbyimpairedhearing,vision,andorganfunction,aswellasdevelopmentaldisabilityandearlydeath.ApersonmusthavetwovariantsinthePEX1geneinordertohavethisformofZSS. Typicalsignsandsymptoms Decreasedmuscletone Seizures Failuretogainweight Impairedvisionandhearing Developmentaldisability Earlydeath(severeform) Whensymptomsdevelop Symptomsaretypicallypresentatbirthordevelopduringinfancy. Howit'streated: Thereiscurrentlynoknowncure.Treatmentfocusesonmanagingsymptomsandpreventingcomplications. Whatdowetest? 1variantinthePEX1gene. ThistestdoesnotincludethemajorityofPEX1variantsthatcauseZSSinanyethnicity. TherearecurrentlynoprofessionalguidelinesintheU.S.forcarriertestingforthiscondition. Relevantethnicities: ThistestdoesnotincludethemajorityofPEX1variantsthatcauseZSSinanyethnicity. Testperformancesummary Accuracywasdeterminedbycomparingresultsfromthistestwithresultsfromsequencing. Greaterthan99%oftestresultswerecorrect.Whileunlikely,thistestmayprovidefalse positiveorfalsenegativeresults.Formoredetailsontheanalyticalperformanceofthis test,refertothepackageinsert. Viewsamplereporthere Viewsamplereporthere Viewpackageinserthere Expandcontent close Seeour2000+regionsworldwide European AshkenaziJewish EasternEuropean Belarus(6+regions) CzechRepublic(14+regions) Estonia(15+regions) Hungary(19+regions) Latvia(1+regions) Lithuania(13+regions) Poland(16+regions) Russia(77+regions) Slovakia(8+regions) Slovenia(40+regions) Ukraine(25+regions) NorthwesternEuropean British&Irish Ireland(26+regions) UnitedKingdom(164+regions) Guernsey French&German Austria(9+regions) Belgium(3+regions) France(13+regions) Germany(15+regions) Luxembourg(3+regions) Netherlands(11+regions) Switzerland(23+regions) Scandinavian Denmark(5+regions) Iceland(5+regions) Norway(18+regions) Sweden(21+regions) FaroeIslands Finnish Finland(18+regions) BroadlyNorthwesternEuropean SouthernEuropean Sardinian Italian Italy(20+regions) Malta(21+regions) Spanish&Portuguese Portugal(20+regions) Spain(18+regions) Greek&Balkan Albania(11+regions) BosniaandHerzegovina(4+regions) 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St.Lucia(7+regions) Mexico&CentralAmerica Belize(5+regions) CostaRica(7+regions) ElSalvador(14+regions) Guatemala(22+regions) Honduras(17+regions) Mexico(32+regions) Nicaragua(16+regions) Panama(9+regions) SouthAmerica Argentina(16+regions) Bolivia(8+regions) Brazil(24+regions) Chile(13+regions) Colombia(27+regions) Ecuador(17+regions) Guyana Paraguay(9+regions) Peru(23+regions) Uruguay(16+regions) Venezuela(22+regions) TheAmishareagroupofpeopleresidingmainlyinthecentralregionsoftheUnitedStates. DescendedfromSwissandGermanancestors,thegroupisdefinedbyreligiousandcultural practices,includingstrongchurchmembershipandlimitsontheuseoftechnology. YourDNAcantellyouaboutyourfamilyhistory.Reportsinclude:Ancestry Composition,Maternal&PaternalHaplogroups,NeanderthalAncestry ThosewhotracetheirrootstoJewishsettlersinCentralandEasternEuropeduringtheMiddle Ages. NorthAfricanBerbersarepeopleofmixedArabandBerberorigin.TheyliveincommunitiesacrosstheNorthAfricanMaghrebregion,whichincludesthecountriesofTunisia,Morocco,Algeria,andLibya. BloomSyndrome AshkenaziJewish SickleCellAnemia African Tay-SachsDisease AshkenaziJewish,Cajun Ifyouarestartingafamily,findoutifyouareacarrierforaninherited condition.Examplereportsinclude:CysticFibrosis,SickleCellAnemia, HereditaryHearingLoss Findandconnectwithrelativesinthe23andMedatabasewhoshareDNAwithyou. Learnhowyourgeneticscaninfluenceyourriskforcertaindiseases. 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