7/9/2014 Registeredname:KwanYuriChowSimon Nickname:KwanYuriChowSimon RegistrationID:RSD/12/00356 Microchip:900088000105966 Breed:TerrierBrazileiro Gender:Male MyDogDNAPASS 870023214817826 KwanYuriChowSimon,TerrierBrazileiro Owner:MarcioLuisDeMedeiros Country:Brazil Testingdate:3/3/2014 DNAidentificationprofile: IdentifiedwithstandardISAG markers Dog'sidentityverifiedfrommicrochiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:Yes Testresults-Knowndisordersinthebreed Disorder Type M odeofinheritance Result MucopolysaccharidosisTypeVII(MPSVII);mutation originallyfoundinBrazilianTerrier Metabolic disorders AutosomalRecessive Clear MalignantHyperthermia(MH) Pharmacogenetics AutosomalDominant Clear Testresults-Newpotentialdisordersinthebreed Disorder Type M odeofinheritance Result CanineMultifocalRetinopathy1(cmr1),Mastiff-relatedbreeds mutation Eye disorders AutosomalRecessive Clear Whenobtainingacarrieroraffectedtestresult,werecommendthatyoucontactyourveterinarianformore detailedinformationontheconditionandpossibletreatment. OnbehalfofGenoscoperLaboratories, JonasDonner,PhD,HeadofResearchandDevelopment atGenoscoperLaboratories POBox.1040FI-00251Helsinki|[email protected] 7/9/2014 Registeredname:KwanYuriChowSimon Nickname:KwanYuriChowSimon RegistrationID:RSD/12/00356 Microchip:900088000105966 Breed:TerrierBrazileiro Gender:Male MyDogDNAPASS 870023214817826 KwanYuriChowSimon,TerrierBrazileiro Owner:MarcioLuisDeMedeiros Country:Brazil Testingdate:3/3/2014 DNAidentificationprofile: IdentifiedwithstandardISAG markers Dog'sidentityverifiedfrommicrochiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:Yes Testresults-Traits Trait Genotype Description ColourLocusA at/at Thedogishomozygousforat-allele. ColourLocusB B/bc|| bc/bd Thedogisheterozygousforbcallele. ColourLocusE Em/E ThedogisheterozygousforEMalleleandEallele. ColourLocusH h/h Thedogishomozygousforhallele. ColourLocusK ky/ky Thedogishomozygousforkyallele. Furnishings/ImproperCoatin PortugueseWaterDogs(marker test) GG/CC Thedogisnotgeneticallylikelytoexpressfurnishings. Bodymass,insulin-likegrowthfactor A/A 1(IGF1)genevariant Thedogishomozygousforthegeneticvarianttypicallyassociated withsmallbodymass.Thisgenotypeiscommone.g.inYorkshire Terrier,ChihuahuaandChineseCrestedDogs. Coatlength/"Fluffy"inWelshCorgi G/G Thedogcarriestwocopiesofthegeneticvarianttypicallyassociated withashort-hairedcoat. Curlycoat C/C Thedogisgeneticallynon-curly. Earerectness(prickedearsversus floppyears),variantchr10:11072007 T/T Thedogishomozygousandcarriestwocopiesofageneticvariant typicallyassociatedwithprickedears.Thisgenotypeiscommonin breedslikeFinnishSpitz,GermanShepherd,Samoyed,Terriersand inCollie-relatedbreeds. NaturalBobtail(T-boxmutation) C/C Thedogdoesnotcarryanycopyofthebobtailmutation.Ittherefore likelyhasalong-tailedphenotype. Snout/skulllength(shortenedhead versuselongatedhead),bone morphogeneticprotein3(BMP3) genevariant A/C Yourdogisheterozygousforthisvariant.Thismeansthatyourdog carriesonecopyofageneticvarianttypicallyassociatedwithan elongatedhead,andonecopytypicallyassociatedwithashortened head. Tinysize,insulin-likegrowthfactor1 receptor(IGF1R)genevariant G/G Yourdogishomozygousforageneticvarianttypicallyfoundinlargersizedbreeds(heightatthewithers>25.4cm(10inches)). OnbehalfofGenoscoperLaboratories, JonasDonner,PhD,HeadofResearchandDevelopment atGenoscoperLaboratories POBox.1040FI-00251Helsinki|[email protected] 7/9/2014 MyDogDNAPASS 870023214817826 KwanYuriChowSimon,TerrierBrazileiro Testresults-Additionaldisordersfoundinotherbreeds-page1/6 Blooddisorders Disorder M odeofinheritance Result BleedingdisorderduetoP2RY12defect AutosomalRecessive Clear CanineCyclicNeutropenia(GrayCollieSyndrome) AutosomalRecessive Clear FactorIXDeficiencyorHaemophiliaB,Gly379Glumutation X-linkedRecessive Clear FactorIXDeficiencyorHaemophiliaB;mutationoriginallyfoundinLhasa Apso X-linkedRecessive Clear FactorVIIDeficiency AutosomalRecessive Clear FactorVIIIdeficiencyorHaemophiliaA;mutationoriginallyfoundinGerman ShepherdDog X-linkedRecessive Clear GlanzmannThrombasthenia(GT),TypeI;mutationoriginallyfoundin PyreneanMountainDog AutosomalRecessive Clear GlycogenStorageDiseaseVIIorHereditaryPhosphofructokinase(PFK) Deficiency AutosomalRecessive Clear May-HegglinAnomaly(MHA) AutosomalDominant Clear PyruvateKinaseDeficiencyofErythrocyte;mutationoriginallyfoundin Beagle AutosomalRecessive Clear PyruvateKinaseDeficiencyofErythrocyte;mutationoriginallyfoundin LabradorRetriever AutosomalRecessive Clear PyruvateKinaseDeficiencyofErythrocyte;mutationoriginallyfoundinPug AutosomalRecessive Clear PyruvateKinaseDeficiencyofErythrocyte;mutationoriginallyfoundinWest HighlandWhiteTerrier AutosomalRecessive Clear TrappedNeutrophilSyndrome(TNS) AutosomalRecessive Clear Disorder M odeofinheritance Result DilatedCardiomyopathy;mutationoriginallyfoundinDobermanPinscher (USA) AutosomalDominant Clear Cardiologicaldisorders POBox.1040FI-00251Helsinki|[email protected] 7/9/2014 MyDogDNAPASS 870023214817826 KwanYuriChowSimon,TerrierBrazileiro Testresults-Additionaldisordersfoundinotherbreeds-page2/6 Endocrinedisorders Disorder M odeofinheritance Result Hypothyroidism;mutationoriginallyfoundinTenterfieldTerrier AutosomalRecessive Clear Hypothyroidism;mutationoriginallyfoundinToyFox-andRatTerrier AutosomalRecessive Clear Disorder M odeofinheritance Result AchromatopsiaorConeDegeneration(CD);mutationoriginallyfoundin GermanShorthairedPointer AutosomalRecessive Clear AutosomalDominantProgressiveRetinalAtrophy(ADPRA) AutosomalDominant Clear CanineMultifocalRetinopathy2(cmr2);mutationoriginallyfoundinCotonde Tulear AutosomalRecessive Clear CanineMultifocalRetinopathy3(cmr3);mutationoriginallyfoundin LapponianHerder AutosomalRecessive Clear Cone-rodDystrophy(cord1-PRA/crd4) AutosomalRecessive Clear Cone-roddystrophy(crdSWD);mutationoriginallyfoundinStandardWirehairedDachshund AutosomalRecessive Clear GeneralizedProgressiveRetinalAtrophy;mutationoriginallyfoundin Schapendoes AutosomalRecessive Clear GoldenRetrieverProgressiveRetinalAtrophy1(GR_PRA1) AutosomalRecessive Clear PrimaryHereditaryCataract(PHC);mutationoriginallyfoundinAustralian Shepherd AutosomalDominant (IncompletePenetrance) Clear PrimaryLensLuxation(PLL) AutosomalRecessive Clear PrimaryOpenAngleGlaucoma;mutationoriginallyfoundinBeagle AutosomalRecessive Clear Rod-ConeDysplasia1(rcd1);mutationoriginallyfoundinIrishSetter AutosomalRecessive Clear Rod-ConeDysplasia1a(rcd1a);mutationoriginallyfoundinSloughi AutosomalRecessive Clear Rod-ConeDysplasia3(rcd3) AutosomalRecessive Clear X-LinkedProgressiveRetinalAtrophy1(XLPRA1) X-linkedRecessive Clear Eyedisorders POBox.1040FI-00251Helsinki|[email protected] 7/9/2014 MyDogDNAPASS 870023214817826 KwanYuriChowSimon,TerrierBrazileiro Testresults-Additionaldisordersfoundinotherbreeds-page3/6 Immunologicaldisorders Disorder M odeofinheritance Result ARSCID(AutosomalRecessiveSevereCombinedImmunodeficiency) AutosomalRecessive Clear C3deficiency AutosomalRecessive Clear X-linkedSevereCombinedImmunodeficiency(XSCID);mutationoriginally foundinBassetHound X-linkedRecessive Clear X-linkedSevereCombinedImmunodeficiency(XSCID);mutationoriginally foundinCardiganWelshCorgi X-linkedRecessive Clear Disorder M odeofinheritance Result HyperuricosuriaandHyperuricemia(HUU)orUrolithiasis AutosomalRecessive Clear PolycysticKidneyDisease(PKD) AutosomalDominant Clear Primaryhyperoxaluria(PH);mutationoriginallyfoundinCotondeTulear AutosomalRecessive Clear X-linkedHereditaryNephropathy(XLHN) X-linkedRecessive Clear Disorder M odeofinheritance Result GlycogenStorageDisease,TypeIa(GSDIa) AutosomalRecessive Clear GlycogenStorageDisease,typeIIorPompe'sdisease AutosomalRecessive Clear GlycogenStorageDisease,typeIIIa(GSDIIIa) AutosomalRecessive Clear HypocatalasiaorAcatalasemia AutosomalRecessive Clear MucopolysaccharidosisTypeIIIA(MPSIIIA);mutationoriginallyfoundin Dachshund AutosomalRecessive Clear MucopolysaccharidosisTypeVI(MPSVI);mutationoriginallyfoundinPoodle AutosomalRecessive Clear PyruvateDehydrogenaseDeficiency Clear Kidneydisorders Metabolicdisorders AutosomalRecessive POBox.1040FI-00251Helsinki|[email protected] 7/9/2014 MyDogDNAPASS 870023214817826 KwanYuriChowSimon,TerrierBrazileiro Testresults-Additionaldisordersfoundinotherbreeds-page4/6 Musculardisorders Disorder M odeofinheritance Result CavalierKingCharlesSpanielMuscularDystrophy(CKCS-MD) X-linkedRecessive Clear Duchenne-likeMuscularDystrophy,PembrokeWelshCorgi-type X-linkedRecessive Clear MuscularDystrophy,DuchennetypeorGoldenRetrieverMuscularDystrophy X-linkedRecessive (GRMD) Clear Myotonia;mutationoriginallyfoundinMiniatureSchnauzer AutosomalRecessive Clear MyotubularMyopathy1orX-linkedMyotubularMyopathy X-linkedRecessive Clear Disorder M odeofinheritance Result BenignFamilialJuvenileEpilepsyorRemittingFocalEpilepsy AutosomalRecessive Clear Cerebellarabiotrophyorneonatalcerebellarcorticaldegeneration(NCCD) AutosomalRecessive Clear Fetal-onsetNeuroaxonalDystrophy(FNAD) AutosomalRecessive Clear L-2-Hydroxyglutaricaciduria(L2HGA);mutation1originallyfoundin StaffordshireBullTerrier AutosomalRecessive Clear L-2-Hydroxyglutaricaciduria(L2HGA);mutation2originallyfoundin StaffordshireBullTerrier AutosomalRecessive Clear NeonatalEncephalopathywithSeizures(NEWS) AutosomalRecessive Clear NeuronalCeroidLipofuscinosis1(NCL1) AutosomalRecessive Clear NeuronalCeroidLipofuscinosis10(NCL10) AutosomalRecessive Clear NeuronalCeroidLipofuscinosis2(NCL2) AutosomalRecessive Clear NeuronalCeroidLipofuscinosis6(NCL6) AutosomalRecessive Clear NeuronalCeroidLipofuscinosis,type12,mutationoriginallyfoundinTibetan terrier AutosomalRecessive Clear Polyneuropathy;mutationoriginallyfoundinAlaskanMalamute AutosomalRecessive Clear Polyneuropathy;mutationoriginallyfoundinGreyhound AutosomalRecessive Clear Progressiveearly-onsetcerebellarataxia;mutationoriginallyfoundinFinnish Hound AutosomalRecessive Clear Neurologicaldisorders POBox.1040FI-00251Helsinki|[email protected] 7/9/2014 MyDogDNAPASS 870023214817826 KwanYuriChowSimon,TerrierBrazileiro Testresults-Additionaldisordersfoundinotherbreeds-page5/6 Neuromusculardisorders Disorder M odeofinheritance Result AlphaFucosidosis AutosomalRecessive Clear Episodicfalling(EF) AutosomalRecessive Clear GM1Gangliosidosis;mutationoriginallyfoundinAlaskanHusky AutosomalRecessive Clear GM1Gangliosidosis;mutationoriginallyfoundinPortugueseWaterDog AutosomalRecessive Clear GM1Gangliosidosis;mutationoriginallyfoundinShibaDog AutosomalRecessive Clear GM2Gangliosidosis;mutationoriginallyfoundinToyPoodle AutosomalRecessive Clear GloboidCellLeukodystrophy(GLD)orKrabbe'sdisease,Terriermutation AutosomalRecessive Clear HyperekplexiaorStartleDisease AutosomalRecessive Clear Disorder M odeofinheritance Result Chondrodysplasia(dwarfism);mutationoriginallyfoundinNorwegian ElkhoundandKarelianBearDog AutosomalRecessive Clear CraniomandibularOsteopathy(CMO) AutosomalDominant Clear Osteogenesisimperfecta(OI)orBrittleBoneDisease;mutationoriginally foundinDachshund AutosomalRecessive Clear SkeletalDysplasia2(SD2) AutosomalRecessive Clear Skeletaldisorders POBox.1040FI-00251Helsinki|[email protected] 7/9/2014 MyDogDNAPASS 870023214817826 KwanYuriChowSimon,TerrierBrazileiro Testresults-Additionaldisordersfoundinotherbreeds-page6/6 Skindisorders Disorder M odeofinheritance Result EctodermaldysplasiaorSkinFragilitySyndrome(ED-SFS) AutosomalRecessive Clear Epidermolysisbullosa,dystrophic AutosomalRecessive Clear EpidermolyticHyperkeratosisorIchthyosisinNorfolkTerrier AutosomalRecessive Clear Musladin-Luekesyndrome(MLS) AutosomalRecessive Clear M odeofinheritance Result Otherdisorders Disorder CongenitalKeratoconjuctivitisSiccaandIchthyosiformDermatosis(CKCSID) AutosomalRecessive orDryEyeCurlyCoatSyndrome Clear GallbladderMucoceleFormation AutosomalDominant Clear Narcolepsy;mutationoriginallyfoundinDobermann AutosomalRecessive Clear PersistantMullerianDuctSyndrome(PMDS),mutationoriginallyfoundin MiniatureSchnauzer AutosomalRecessive Clear PrimaryCiliaryDyskinesia(PCD) AutosomalRecessive Clear OnbehalfofGenoscoperLaboratories, JonasDonner,PhD,HeadofResearchandDevelopment atGenoscoperLaboratories POBox.1040FI-00251Helsinki|[email protected] 7/9/2014 MyDogDNAPASS 870023214817826 KwanYuriChowSimon,TerrierBrazileiro APPENDIX Explanationoftheresultsofthetesteddisorders Autosomalrecessiveinheritance(ARI) Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdeveloping andpassingonthedisease/condition. Carrier-Adogcarriesonecopyofthetestedmutation.Carrierstypicallyhaveanormal,healthy appearancebutpassonthemutationtoapproximately50%oftheiroffspring. Affected-Adogcarriestwocopiesofthetestedmutationandisathighorincreasedriskofdeveloping thedisease/condition. Autosomaldominantinheritance(ADI) Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdeveloping andpassingonthedisease/condition. Affected-Adogcarriesoneortwocopiesofthetestedmutationandisathighorincreasedriskof developingthedisease/condition. X-linkedrecessiveinheritance(X-linked) Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdeveloping andpassingonthedisease/condition. Carrier-Femalecarrierstypicallyhaveanormal,healthyappearancebutcarryonecopyofthetested mutationononeoftheirXchromosomes.AsmalesonlyhaveoneXchromosome,therearenomale carriers. Affected-Affectedfemaledogscarrytwomutatedcopiesofthetestedmutation.Affectedmalescarry onecopyofthetestedmutationontheirsingleXchromosome.Affecteddogsareathighorincreased riskofdevelopingthedisease/condition. Pleasenotethatthedescriptionsabovearegeneralizedbasedontypicallyobservedinheritance patterns.Whenobtainingacarrieroraffectedtestresult,alwaysrefertothecorrespondingonlinetest documentationformoredetailedinformationontheconditionandanyexceptions. GenoscoperLaboratories-LegalNotice GenoscoperLaboratories’MyDogDNAservicesandtestresultsareproducedbasedonsamplesandmaterials suppliedbytheClient.TestingandanalysisisperformedbyusingmethodsandprocessesthatGenoscoper Laboratoriesdeemsappropriate.GenoscoperLaboratoriesreservestherighttomakechangesinthe collectionofthesingle-genetestsincludedintheMyDogDNAtestingserviceaswellastoremoveresults derivedfromthem,ifnewinformationcomesavailablethatinanywayquestionsthevalidityofthetestresults. ResultsprovidedbyGenoscoperLaboratoriesarepreparedsolelyfortheuseoftheClient. Forfurtherinformation,pleasevisit:www.mydogdna.com/legal-notices POBox.1040FI-00251Helsinki|[email protected]
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