test results for pharmacogenetics · 2020. 9. 10. · breed: cane corso gender: female owner: j.j....

RegisteredName: ChiaroeTondoFlabébé

Nickname: Muffin

RegistrationID: NHSB3052420

Microchip: 528140000661121

Breed: CaneCorso

Gender: Female

Owner: J.J.deVries-Buitenweg

Country: Netherlands

Testingdate: 2019/3/26

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ChiaroeTondoFlabébé,CaneCorso

Dog'sidentityverifiedfrommicrochiportattoobyveterinarianorotherauthorisedpersonduringsampletaking: No

Testresults-Knowndisordersinthebreed

Disorder Type ModeofInheritance Result

CanineMultifocalRetinopathy1,(CMR1);mutationoriginallyfoundinMastiff-relatedbreeds

OcularDisorders

AutosomalRecessive Clear

Testresultsforpharmacogenetics

Disorder ModeofInheritance Result

Multi-DrugResistance1,(MDR1) AutosomalDominant Clear

JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories

OnbehalfofGenoscoperLaboratories,


Nickname: Muffin


Microchip: 528140000661121

Breed: CaneCorso

Gender: Female




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Testresults-Traits-page1

CoatTypeTrait Genotype Description

CoatLength L/L Thedogislikelytohaveshort-hairedcoat.

Furnishings/ImproperCoatinPortugueseWaterDogs(markertest)

GG/TC Thedogisnotgeneticallylikelytoexpressfurnishings.

KRT71c.451C>T(p.Arg151Trp) C/C Thedogdoesnotcarryanycopiesofthetestedallelecausingcurlycoat.Thedogmostlikelyhasnon-curlyhair.

MC5Rc.237A>T T/T Thedoghastwocopiesofthealleleassociatedwithlowshedding.Thedogislikelyaverageorlowshedder.

SGK3(p.Val96Glyfs) I/I ThedogdoesnotcarrythetestedhairlessnessalleleoftheAmericanHairlessTerrier.




Nickname: Muffin


Microchip: 528140000661121

Breed: CaneCorso

Gender: Female




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CoatColour-page1Trait Genotype Description

ColourLocusE-Extensions Em/Em Thedogislikelytohaveadarkmask.

ColourLocusB-Brown B/B Thedogisnotlikelytohavebrownpigment.

ColourLocusK-DominantBlack KB/ky||KB/kbr||kbr/ky||kbr/kbr

Thedogisgeneticallydominantblackorbrindle.

ColourLocusA-Agouti ay/ay Thedogisgeneticallysable.

ColourLocusS-Piebaldorextremewhitespotting

S/S Thedogislikelytohavesolidcoatcolourwithminimalwhite.

ColourLocusH-Harlequin h/h Thedogdoesn'thaveharlequinpattern.

ColourLocusD-Dilution(d1allele-markertestavailableforlimitedbreeds)

D/D Thedogislikelytohavenon-dilutecoatcolour.

Dilution(d2allele) D/D Thedogdoesnotcarryanycopiesoftherared2alleleassociatedwithdilutioninChowChow,FrenchBulldog,SloughiandThaiRidgeback.

Merle(Mallele) m/m Thedogisgeneticallynon-merleanddoesnotcarrya SILVgeneSINEinsertion.

SaddleTan(RALYgenedupl.) -/- ThedogmayhavesaddletanpatternifithasalsotanpointgenotypeattheAlocus.




Nickname: Muffin


Microchip: 528140000661121

Breed: CaneCorso

Gender: Female




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CoatColour-page2Trait Genotype Description

Albinism(caL-allele) C/C Thedogdoesnotcarrythetestedmutationforalbinism.




Nickname: Muffin


Microchip: 528140000661121

Breed: CaneCorso

Gender: Female




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BodySizeTrait Genotype Description

IGF1(chr15:41221438)

G/G Thedogishomozygousfortheancestralalleletypicallyassociatedwithlargebodymass.

IGF1Rc.611G>A(p.Arg204His)

G/G Thedogcarriestwoancestralallelestypicallyfoundinlarger-sizedbreeds.

ACSL4chrX.82919525C>T

C/T Thedoghasonecopyofthealleleassociatedwithlargeskeletalsizeandheavymusclingwithconsiderablebackfatthickness.

IGSF1p.Asp768Glu A/A Thedoghastwocopiesofthealleleassociatedwithheavymuscling.

IRS4chrX:82296039 A/G Thedoghasonecopyofthealleleassociatedwithlargebodysize.

FGF4insertion D/D Thedogishomozygousfortheancientallele.Thedogislikelytohavelegsofnormallength.

STC2(chr4:39182836)

T/T Thedoghastwocopiesoftheancestralalleleassociatedwithlargerbodysize.

GHR1(p.Glu191Lys) G/G Thedoghastwocopiesoftheancestralalleleassociatedwithlargerbodysize.

GHR2(p.Pro177Leu) C/C Thedoghastwocopiesoftheancestralalleleassociatedwithlargerbodysize.

HMGA2(chr10:8348804)

G/G Thedoghastwocopiesoftheancestralalleleassociatedwithlargerbodysize.




Nickname: Muffin


Microchip: 528140000661121

Breed: CaneCorso

Gender: Female




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MorphologyTrait Genotype Description

BMP3c.1344C>A(p.Phe448Leu)

C/C Thedogdoesnotcarrythetestedalleletypicallyassociatedwithshortenedhead(brachycephaly).Thedogismorelikelytohaveanelongatedhead(dolichocephaly).

SMOC2 D/D Thedogdoesnotcarrythetestedalleletypicallyassociatedwithshortenedhead(brachycephaly).Thedogismorelikelytohaveanelongatedhead(dolichocephaly).

chr10:11072007 C/C Thedogcarriestwocopiesofanalleletypicallyassociatedwithfloppyears.Thedogismorelikelytohavefloppythanprickedears.

Tc.189C>G(p.Ile63Met)

C/C Thedogdoesnotcarrythetestedbobtail-causinggeneticvariant.Thedogismostlikelylong-tailed.

EPAS1(p.Gly305Ser)

G/G Thedogdoesnotcarrythetestedvariantassociatedwithadaptationtohighaltitudes.

LIMBR1DC-1 G/G ThedogdoesnotcarrythetestedalleleassociatedwithhinddewclawsinAsianbreeds.Thedogisnotlikelytohavehinddewclaws.

LIMBR1DC-2 G/G Thedogdoesnotcarrythetestedalleleassociatedwithhinddewclawsinwesternbreeds.Thedogislikelynottohavehinddewclaws.

AXL4 D/D ThedogdoesnothavethetestedalleletypicallyassociatedwithblueeyesinSiberianHuskies.Thedogislikelytohavebrowneyes.



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Testresults-Additionaldisordersfoundinotherbreeds-page1

BloodDisorders-page1Disorder ModeofInheritance Result

BleedingdisorderduetoP2RY12defect AutosomalRecessive Clear

CanineCyclicNeutropenia,CyclicHematopoiesis,GreyCollieSyndrome,(CN)


CanineLeukocyteAdhesionDeficiency(CLAD),typeIII AutosomalRecessive Clear

CanineScottSyndrome,(CSS) AutosomalRecessive Clear

FactorIXDeficiencyorHemophiliaB;mutationGly379Glu X-linkedRecessive Clear

FactorIXDeficiencyorHemophiliaB;mutationoriginallyfoundinAiredaleTerrier

X-linkedRecessive Clear

FactorIXDeficiencyorHemophiliaB;mutationoriginallyfoundinLhasaApso


FactorVIIDeficiency AutosomalRecessive Clear

FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinBoxer X-linkedRecessive Clear

FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinGermanShepherdDog


FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinOldEnglishSheepdog


FactorVIIIDeficiencyorHemophiliaA;p.Cys548TyrmutationoriginallyfoundinGermanShepherd


FactorXIDeficiency AutosomalDominant(IncompletePenetrance)

Clear

FamilialCongenitalMethemoglobinemia;mutationoriginallyfoundinPomeranian


GlanzmannThrombastheniaTypeI,(GT);mutationoriginallyfoundinPyreneanMountainDog


GlanzmannThrombastheniaTypeI,(GT);mutationoriginallyfoundinmixedbreeddogs


HereditaryElliptocytosis Clear

HereditaryPhosphofructokinase(PFK)Deficiency AutosomalRecessive Clear

Macrothrombocytopenia;disease-linkedvariantoriginallyfoundinNorfolkandCairnTerrier


May-HegglinAnomaly(MHA) AutosomalDominant Clear

PrekallikreinDeficiency AutosomalRecessive Clear

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BloodDisorders-page2Disorder ModeofInheritance Result

PyruvateKinaseDeficiency;mutationoriginallyfoundinBasenji AutosomalRecessive Clear

PyruvateKinaseDeficiency;mutationoriginallyfoundinBeagle AutosomalRecessive Clear

PyruvateKinaseDeficiency;mutationoriginallyfoundinPug AutosomalRecessive Clear

PyruvateKinaseDeficiency;mutationoriginallyfoundinWestHighlandWhiteTerrier


Thrombopathia;mutationoriginallyfoundinBassetHound AutosomalRecessive Clear

Thrombopathia;mutationoriginallyfoundinEskimoSpitz AutosomalRecessive Clear

Thrombopathia;mutationoriginallyfoundinLandseer AutosomalRecessive Clear

TrappedNeutrophilSyndrome,(TNS) AutosomalRecessive Clear

VonWillebrand'sDisease(vWD)Type1 AutosomalRecessive Clear

VonWillebrand'sDisease(vWD)Type2 AutosomalRecessive Clear

VonWillebrand'sDisease(vWD)Type3;mutationoriginallyfoundinKooikerhondje


VonWillebrand'sDisease(vWD)Type3;mutationoriginallyfoundinScottishTerrier


VonWillebrand'sDisease(vWD)Type3;mutationoriginallyfoundinShetlandSheepdog


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OcularDisorders-page1Disorder ModeofInheritance Result

CanineMultifocalRetinopathy2,(CMR2);mutationoriginallyfoundinCotondeTulear


CanineMultifocalRetinopathy3,(CMR3);mutationoriginallyfoundinLapponianHerder


ConeDegeneration,(CD)orAchromatopsia;mutationoriginallyfoundinAlaskanMalamute


ConeDegeneration,(CD)orAchromatopsia;mutationoriginallyfoundinGermanShepherdDog


ConeDegeneration,(CD)orAchromatopsia;mutationoriginallyfoundinGermanShorthairedPointer


Cone-RodDystrophy1,(crd1);mutationoriginallyfoundinAmericanStaffordshireTerrier


Cone-RodDystrophy2,(crd2);mutationoriginallyfoundinAmericanPitBullTerrier


Cone-RodDystrophy,(cord1-PRA/crd4) AutosomalRecessive(IncompletePenetrance)

Clear

Cone-RodDystrophy,StandardWirehairedDachshund,(crdSWD) AutosomalRecessive Clear

CongenitalEyeDisease;mutationoriginallyfoundinIrishSoft-CoatedWheatenTerrier


DominantProgressiveRetinalAtrophy,(DPRA) AutosomalDominant Clear

EarlyRetinalDegeneration,(erd);mutationoriginallyfoundinNorwegianElkhound


GeneralizedProgressiveRetinalAtrophy AutosomalRecessive Clear

GoldenRetrieverProgressiveRetinalAtrophy1,(GR_PRA1) AutosomalRecessive Clear

GoldenRetrieverProgressiveRetinalAtrophy2,(GR_PRA2) AutosomalRecessive Clear

PrimaryHereditaryCataract,(PHC);mutationoriginallyfoundinAustralianShepherd

AutosomalDominant(IncompletePenetrance)

Clear

PrimaryLensLuxation,(PLL) AutosomalRecessive Clear

PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinBassetFauvedeBretagne


PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinBeagle


PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinNorwegianElkhound


PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinPetitBassetGriffonVendeen


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OcularDisorders-page2Disorder ModeofInheritance Result

Primarylensluxation(PLL)andglaucoma;mutationoriginallyfoundinSharPei


ProgressiveRetinalAtrophy(PRA4);mutationoriginallyfoundinLhasaApso


ProgressiveRetinalAtrophyTypeIII,(PRAtypeIII);mutationoriginallyfoundinTibetanSpanielandTibetanTerrier


ProgressiveRetinalAtrophy,(CNGA1-PRA);mutationoriginallyfoundinShetlandSheepdog


ProgressiveRetinalAtrophy,(PAP1_PRA);mutationoriginallyfoundinPapillonandPhalene


ProgressiveRetinalAtrophy,(PRA);mutationoriginallyfoundinBasenji AutosomalRecessive Clear

ProgressiveRetinalAtrophy,(PRA);mutationoriginallyfoundinSwedishVallhund


Rod-ConeDysplasia1,(rcd1);mutationoriginallyfoundinIrishSetter AutosomalRecessive Clear

Rod-ConeDysplasia1a,(rdc1a);mutationoriginallyfoundinSloughi AutosomalRecessive Clear

Rod-ConeDysplasia3,(rcd3) AutosomalRecessive Clear

X-LinkedProgressiveRetinalAtrophy1,(XLPRA1) X-linkedRecessive Clear

X-LinkedProgressiveRetinalAtrophy2,(XLPRA2;TypeAPRA) X-linkedRecessive Clear

CardiacDisordersDisorder ModeofInheritance Result

DilatedCardiomyopathy,(DCM);mutationoriginallyfoundinSchnauzer AutosomalRecessive Clear

LongQTSyndrome AutosomalDominant Clear

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EndocrineDisordersDisorder ModeofInheritance Result

CongenitalHypothyroidism;mutationoriginallyfoundinTenterfieldTerrier AutosomalRecessive Clear

CongenitalHypothyroidism;mutationoriginallyfoundinToyFoxandRatTerrier


ImmunologicalDisordersDisorder ModeofInheritance Result

AutosomalRecessiveSevereCombinedImmunodeficiency,(ARSCID) AutosomalRecessive Clear

Complement3(C3)Deficiency AutosomalRecessive Clear

MyeloperoxidaseDeficiency AutosomalRecessive Clear

SevereCombinedImmunodeficiencyinFrisianWaterDogs,(SCID) AutosomalRecessive Clear

X-LinkedSevereCombinedImmunodeficiency(XSCID);mutationoriginallyfoundinBassetHound


X-LinkedSevereCombinedImmunodeficiency(XSCID);mutationoriginallyfoundinCardiganWelshCorgi


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RenalDisordersDisorder ModeofInheritance Result

2,8-Dihydroxyadenine(2,8-DHA)urolithiasis AutosomalRecessive Clear

CystinuriaTypeI-A;mutationoriginallyfoundinNewfoundlandDog AutosomalRecessive Clear

CystinuriaTypeII-A;mutationoriginallyfoundinAustralianCattleDog AutosomalDominant Clear

FamilialNephropathy(FN);mutationoriginallyfoundinEnglishCockerSpaniel


FamilialNephropathy(FN);mutationoriginallyfoundinEnglishSpringerSpaniel


FanconiSyndrome AutosomalRecessive Clear

Hyperuricosuria,(HUU) AutosomalRecessive Clear

PolycysticKidneyDiseaseinBullTerriers,(BTPKD) AutosomalDominant Clear

PrimaryHyperoxaluria,(PH);mutationoriginallyfoundinCotondeTulear AutosomalRecessive Clear

ProteinLosingNephropathy,(PLN);NPHS1genevariant Clear

RenalCystadenocarcinomaandNodularDermatofibrosis,(RCND) AutosomalDominant Clear

X-LinkedHereditaryNephropathy,(XLHN) X-linkedRecessive Clear

X-LinkedHereditaryNephropathy,(XLHN);mutationoriginallyfoundinNavasotaDog


Xanthinuria,Type1a;mutationoriginallyfoundinmixedbreeddogs AutosomalRecessive Clear

Xanthinuria,Type2a;mutationoriginallyfoundinToyManchesterTerrier AutosomalRecessive Clear

Xanthinuria,Type2b;mutationoriginallyfoundinCavalierKingCharlesSpanielandEnglishCockerSpaniel


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MetabolicDisordersDisorder ModeofInheritance Result

GlycogenStorageDiseaseTypeIIorPompe'sDisease,(GSDII) AutosomalRecessive Clear

GlycogenStorageDiseaseTypeIIIa,(GSDIIIa) AutosomalRecessive Clear

GlycogenStorageDiseaseTypeIa,(GSDIa) AutosomalRecessive Clear

HypocatalasiaorAcatalasemia AutosomalRecessive Clear

IntestinalCobalaminMalabsorptionorImerslund-GräsbeckSyndrome,(IGS);mutationoriginallyfoundinBeagle


IntestinalCobalaminMalabsorptionorImerslund-GräsbeckSyndrome,(IGS);mutationoriginallyfoundinBorderCollie


MucopolysaccharidosisTypeIIIA,(MPSIIIA);mutationoriginallyfoundinDachshund


MucopolysaccharidosisTypeIIIA,(MPSIIIA);mutationoriginallyfoundinNewZealandHuntaway


MucopolysaccharidosisTypeVII,(MPSVII);mutationoriginallyfoundinBrazilianTerrier


MucopolysaccharidosisTypeVII,(MPSVII);mutationoriginallyfoundinGermanShepherd


PyruvateDehydrogenasePhosphatase1(PDP1)Deficiency AutosomalRecessive Clear

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MuscularDisordersDisorder ModeofInheritance Result

CavalierKingCharlesSpanielMuscularDystrophy,(CKCS-MD) X-linkedRecessive Clear

CentronuclearMyopathy,(CNM);mutationoriginallyfoundinGreatDane AutosomalRecessive Clear

CentronuclearMyopathy,(CNM);mutationoriginallyfoundinLabradorRetriever


DuchenneorDystrophinMuscularDystrophy,(DMD);mutationoriginallyfoundinGoldenRetriever


DuchenneorDystrophinMuscularDystrophy,(DMD);mutationoriginallyfoundinNorfolkTerrier


MuscularDystrophy,Ullrich-type;mutationoriginallyfoundinLandseer AutosomalRecessive Clear

Myostatindeficiency(DoubleMuscling,"Bully") AutosomalRecessive Clear

MyotoniaCongenita;mutationoriginallyfoundinAustralianCattleDog AutosomalRecessive Clear

MyotoniaCongenita;mutationoriginallyfoundininLabradorRetriever AutosomalRecessive Clear

MyotubularMyopathy;mutationoriginallyfoundinRottweiler X-linkedRecessive Clear

NemalineMyopathy;mutationoriginallyfoundinAmericanBulldog AutosomalRecessive Clear

X-LinkedMyotubularMyopathy X-linkedRecessive Clear

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NeurologicalDisorders-page1Disorder ModeofInheritance Result

AcralMutilationSyndrome,(AMS) AutosomalRecessive Clear

AlaskanHuskyEncephalopathy,(AHE) AutosomalRecessive Clear

AlexanderDisease(AxD);mutationoriginallyfoundinLabradorRetriever AutosomalDominant Clear

Bandera'sNeonatalAtaxia,(BNAt) AutosomalRecessive Clear

BenignFamilialJuvenileEpilepsyorRemittingFocalEpilepsy AutosomalRecessive Clear

CerebellarCorticalDegeneration,(CCD);mutationoriginallyfoundinVizsla


CerebralDysfunction;mutationoriginallyfoundinFriesianStabyhoun AutosomalRecessive Clear

Dandy-Walker-LikeMalformation(DWLM);mutationoriginallyfoundinEurasier


DegenerativeMyelopathy,(DM;SOD1A) AutosomalRecessive(IncompletePenetrance)

Clear

Early-OnsetProgressivePolyneuropathy;mutationoriginallyfoundinAlaskanMalamute


Early-OnsetProgressivePolyneuropathy;mutationoriginallyfoundinGreyhound


FetalOnsetNeuroaxonalDystrophy,(FNAD) AutosomalRecessive Clear

HereditaryAtaxiaorCerebellarAtaxia;mutationoriginallyfoundinOldEnglishSheepdogandGordonSetter


HereditaryAtaxia;mutationoriginallyfoundininNorwegianBuhund AutosomalRecessive Clear

HyperekplexiaorStartleDisease AutosomalRecessive Clear

Hypomyelination;mutationoriginallyfoundinWeimaraner AutosomalRecessive Clear

JuvenileMyoclonicEpilepsy,(JME);mutationoriginallyfoundinRhodesianRidgeback


Juvenileencephalopathy;mutationoriginallyfoundinParsonRussellTerrier


L-2-Hydroxyglutaricaciduria,(L2HGA);mutationoriginallyfoundinStaffordshireBullTerrier


L-2-Hydroxyglutaricaciduria,(L2HGA);mutationoriginallyfoundinWestHighlandWhiteTerrier


LagottoStorageDisease,(LSD) AutosomalRecessive Clear

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NeurologicalDisorders-page2Disorder ModeofInheritance Result

NeonatalCerebellarCorticalDegenerationorCerebellarAbiotrophy,(NCCD)


NeonatalEncephalopathywithSeizures,(NEWS) AutosomalRecessive Clear

NeuroaxonalDystrophy(NAD);mutationoriginallyfoundinSpanishWaterDog


NeuroaxonalDystrophy,(NAD);mutationoriginallyfoundinPapillon AutosomalRecessive Clear

NeuronalCeroidLipofuscinosis1,(NCL1);mutationoriginallyfoundinDachshund


NeuronalCeroidLipofuscinosis10,(NCL10);mutationoriginallyfoundinAmericanBulldog


NeuronalCeroidLipofuscinosis4A,(NCL4);mutationoriginallyfoundinAmericanStaffordshireTerrier


NeuronalCeroidLipofuscinosis5,(NCL5);mutationoriginallyfoundinBorderCollie


NeuronalCeroidLipofuscinosis8,(NCL8);mutationoriginallyfoundinAlpineDachsbracke


NeuronalCeroidLipofuscinosis8,(NCL8);mutationoriginallyfoundinAustralianShepherd


NeuronalCeroidLipofuscinosis8,(NCL8);mutationoriginallyfoundinEnglishSetter


NeuronalCeroidLipofuscinosis,(NCL7);mutationoriginallyfoundinChineseCrestedDogandChihuahua


Polyneuropathywithocularabnormalitiesandneuronalvacuolation,(POANV);mutationoriginallyfoundinBlackRussianTerrier


ProgressiveEarly-OnsetCerebellarAtaxia;mutationoriginallyfoundinFinnishHound


SensoryNeuropathy;mutationoriginallyfoundinBorderCollie AutosomalRecessive Clear

ShakingPuppySpongiformLeucoEncephaloMyelopathy,(SLEM);mutationoriginallyfoundinBorderTerrier


SpinocerebellarAtaxiawithMyokymiaand/orSeizures(SCA) AutosomalRecessive Clear

SpinocerebellarAtaxia/Late-OnsetAtaxia(SCA,LOA) AutosomalRecessive Clear

SpongyDegenerationwithCerebellarAtaxia,(SDCA1);mutationoriginallyfoundinBelgianShepherdDog


SpongyDegenerationwithCerebellarAtaxia,(SDCA2);mutationoriginallyfoundinBelgianShepherdDog


X-LinkedTremors;mutationoriginallyfoundinEnglishSpringerSpaniel X-linkedRecessive Clear

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NeuromuscularDisordersDisorder ModeofInheritance Result

CongenitalMyasthenicSyndrome(CMS);mutationoriginallyfoundinLabradorRetriever


CongenitalMyasthenicSyndrome,(CMS);mutationoriginallyfoundinJackRussellTerrier


CongenitalMyasthenicSyndrome,(CMS);mutationoriginallyfoundinOldDanishPointingDog


Exercise-InducedCollapse,(EIC) AutosomalRecessive(IncompletePenetrance)

Clear

GM1Gangliosidosis;mutationoriginallyfoundinAlaskanHusky AutosomalRecessive Clear

GM1Gangliosidosis;mutationoriginallyfoundinPortugueseWaterDog AutosomalRecessive Clear

GM1Gangliosidosis;mutationoriginallyfoundinShibaDog AutosomalRecessive Clear

GM2Gangliosidosis,mutationoriginallyfoundinJapaneseChin AutosomalRecessive Clear

GM2Gangliosidosis;mutationoriginallyfoundinToyPoodle AutosomalRecessive Clear

GloboidCellLeukodystrophyorKrabbeDisease,(GLD);mutationoriginallyfoundinIrishSetter


GloboidCellLeukodystrophyorKrabbeDisease,(GLD);mutationoriginallyfoundinTerriers


ParoxysmalDyskinesia,(PxD);mutationoriginallyfoundinIrishSoftCoatedWheatenTerrier


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SkeletalDisordersDisorder ModeofInheritance Result

Chondrodysplasia;mutationoriginallyfoundinNorwegianElkhoundandKarelianBearDog


CleftPalate;CleftLipandPalatewithSyndactyly;ADAMTS20genemutationoriginallyfoundinNovaScotiaDuckTollingRetriever


CleftPalate;DLX6genemutationoriginallyfoundinNovaScotiaDuckTollingRetriever


CraniomandibularOsteopathy,(CMO);mutationassociatedwithterrierbreeds

AutosomalDominant(IncompletePenetrance)

Clear

HereditaryVitaminD-ResistantRickets,(HVDRR) AutosomalRecessive Clear

OculoskeletalDysplasia2orDwarfism-RetinalDysplasia2,(OSD2) AutosomalRecessive Clear

Osteochondrodysplasia;mutationoriginallyfoundinMiniaturePoodle AutosomalRecessive Clear

Osteochondromatosis;mutationoriginallyfoundinAmericanStaffordshireTerrier

AutosomalDominant Clear

OsteogenesisImperfecta,(OI);mutationoriginallyfoundinBeagle AutosomalDominant Clear

OsteogenesisImperfecta,(OI);mutationoriginallyfoundinDachshund AutosomalRecessive Clear

SkeletalDisease(Hypophosphatasia);mutationoriginallyfoundinKarelianBearDog


SkeletalDysplasia2,(SD2) AutosomalRecessive Clear

SpondylocostalDysostosis AutosomalRecessive Clear

VandenEnde-GuptaSyndrome,(VDEGS) AutosomalRecessive Clear

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DermalDisordersDisorder ModeofInheritance Result

DystrophicEpidermolysisBullosa;mutationoriginallyfoundinCentralAsianOvcharka


DystrophicEpidermolysisBullosa;mutationoriginallyfoundinGoldenRetriever


EpidermolyticHyperkeratosis AutosomalRecessive Clear

FocalNon-EpidermolyticPalmoplantarKeratoderma,(FNEPPK);mutationoriginallyfoundinDoguedeBordeaux


GoldenRetrieverIchthyosis AutosomalRecessive Clear

HereditaryFootpadHyperkeratosis,(HFH) AutosomalRecessive Clear

HereditaryNasalParakeratosis,(HNPK);mutationoriginallyfoundinGreyhound


Ichthyosis;mutationoriginallyfoundinAmericanBulldog AutosomalRecessive Clear

Ichthyosis;mutationoriginallyfoundinGreatDane AutosomalRecessive Clear

LamellarIchthyosis,(LI) AutosomalRecessive Clear

LethalAcrodermatitis,(LAD);mutationoriginallyfoundininBullTerrierandMiniatureBullTerrier


LigneousMembranitis AutosomalRecessive Clear

Musladin-Luekesyndrome,(MLS) AutosomalRecessive Clear

X-LinkedEctodermalDysplasia,(XHED) X-linkedRecessive Clear

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OtherDisordersDisorder ModeofInheritance Result

AcuteRespiratoryDistressSyndrome,(ARDS);mutationoriginallyfoundinDalmatian


AmelogenesisImperfecta,(AI);mutationoriginallyfoundinItalianGreyhound


AmelogenesisImperfecta,(AI);mutationoriginallyfoundinParsonRussellTerrier


CongenitalKeratoconjunctivitisSiccaandIchthyosiformDermatosis,(CKCSID)


DentalHypomineralisation;mutationoriginallyfoundinBorderCollie AutosomalRecessive Clear

LungDevelopmentalDisease;mutationoriginallyfoundininAiredaleTerrier


Narcolepsy;mutationoriginallyfoundinDachshund AutosomalRecessive Clear

Narcolepsy;mutationoriginallyfoundinDobermanPinscher AutosomalRecessive Clear

Narcolepsy;mutationoriginallyfoundinLabradorRetriever AutosomalRecessive Clear

PersistentMüllerianDuctSyndrome,(PMDS);mutationoriginallyfoundinMiniatureSchnauzer


PrimaryCiliaryDyskinesia,(PCD) AutosomalRecessive Clear

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APPENDIXExplanationoftheresultsofthetesteddisorders

Autosomalrecessiveinheritance(ARI)

Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdevelopingandpassingonthedisease/condition.Carrier-Adogcarriesonecopyofthetestedmutation.Carrierstypicallyhaveanormal,healthyappearancebutpassonthemutationtoapproximately50%oftheiroffspring.Atrisk-Adogcarriestwocopiesofthetestedmutationandisathighorincreasedriskofdevelopingthedisease/condition.

Autosomaldominantinheritance(ADI)

Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdevelopingandpassingonthedisease/condition.Atrisk-Adogcarriesoneortwocopiesofthetestedmutationandisathighorincreasedriskofdevelopingthedisease/condition.

X-linkedrecessiveinheritance(X-linked)

Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdevelopingandpassingonthedisease/condition.Carrier-Femalecarrierstypicallyhaveanormal,healthyappearancebutcarryonecopyofthetestedmutationononeoftheirXchromosomes.AsmalesonlyhaveoneXchromosome,therearenomalecarriers.Atrisk-Femaledogsatriskcarrytwomutatedcopiesofthetestedmutation.MalescarryonecopyofthetestedmutationontheirsingleXchromosome.Dogsatriskareathighorincreasedriskofdevelopingthedisease/condition.

Pleasenotethatthedescriptionsabovearegeneralizedbasedontypicallyobservedinheritancepatterns.Whenobtaininga'carrier'or'atrisk'testresult,alwaysrefertothecorrespondingonlinetestdocumentationformoredetailedinformationontheconditionandanyexceptions.

GenoscoperLaboratories-LegalNotice

GenoscoperLaboratories’servicesandtestresultsareproducedbasedonsamplesandmaterialssuppliedbytheClient.TestingandanalysisisperformedbyusingmethodsandprocessesthatGenoscoperLaboratoriesdeemsappropriate.GenoscoperLaboratoriesreservestherighttomakechangesinthecollectionofthesingle-genetestsincludedinthetestingserviceaswellastoremoveresultsderivedfromthem,ifnewinformationcomesavailablethatinanywayquestionsthevalidityofthetestresults.ResultsprovidedbyGenoscoperLaboratoriesarepreparedsolelyfortheuseoftheClient.Forfurtherinformation,pleasevisit:www.mydogdna.com/legal-notices

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test results for pharmacogenetics · 2020. 9. 10. · breed: cane corso gender: female owner: j.j....

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