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OPTIMAL SELECTION™ is a Trademark of Mars, Incorporated. © 2018 Mars, Incorporated. GENOSCOPER® is a Registered Trademark of Genoscoper Laboratories Laboratories Nickname: Treason Breed: French Bulldog Gender: Male Owner: Aria Wolf Country: United States Testing date: 2020/6/24 BR13 468 Treason, French Bulldog Test results - Known disorders in the breed Disorder Type Mode of Inheritance Result Canine Multifocal Retinopathy 1, (CMR1); mutation originally found in Mastiff-related breeds Ocular Disorders Autosomal Recessive Clear Degenerative Myelopathy, (DM; SOD1A) Neurological Disorders Autosomal Recessive (Incomplete Penetrance) Clear Test results - New potential disorders in the breed Disorder Type Mode of Inheritance Result Cone-Rod Dystrophy, (cord1-PRA / crd4) Ocular Disorders Autosomal Recessive (Incomplete Penetrance) Clear Jonas Donner, PhD, Head of Research and Development at Genoscoper Laboratories On behalf of Genoscoper Laboratories,
23

Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

Feb 24, 2021

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Page 1: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

Nickname: Treason

Breed: FrenchBulldog

Gender: Male

Owner: AriaWolf

Country: UnitedStates

Testingdate: 2020/6/24

BR13468

Treason,FrenchBulldog

Testresults-Knowndisordersinthebreed

Disorder Type ModeofInheritance Result

CanineMultifocalRetinopathy1,(CMR1);mutationoriginallyfoundinMastiff-relatedbreeds

OcularDisorders

AutosomalRecessive Clear

DegenerativeMyelopathy,(DM;SOD1A) NeurologicalDisorders

AutosomalRecessive(IncompletePenetrance)

Clear

Testresults-Newpotentialdisordersinthebreed

Disorder Type ModeofInheritance Result

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

Clear

JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories

OnbehalfofGenoscoperLaboratories,

Page 2: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

Nickname: Treason

Breed: FrenchBulldog

Gender: Male

Owner: AriaWolf

Country: UnitedStates

Testingdate: 2020/6/24

BR13468

Treason,FrenchBulldog

Testresultsforpharmacogenetics

Disorder ModeofInheritance Result

Multi-DrugResistance1,(MDR1) AutosomalDominant Clear

JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories

OnbehalfofGenoscoperLaboratories,

Page 3: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

Nickname: Treason

Breed: FrenchBulldog

Gender: Male

Owner: AriaWolf

Country: UnitedStates

Testingdate: 2020/6/24

BR13468

Treason,FrenchBulldog

Testresults-Traits-page1

CoatTypeTrait Genotype Description

CoatLength L/L Thedogislikelytohaveshort-hairedcoat.

Furnishings/ImproperCoatinPortugueseWaterDogs(markertest)

GG/CC Thedogisnotgeneticallylikelytoexpressfurnishings.

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

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

SGK3(p.Val96Glyfs) I/I ThedogdoesnotcarrythetestedhairlessnessalleleoftheAmericanHairlessTerrier.

SGK3c.137_138insT(p.Glu47Glyfs) D/D ThedogdoesnotcarrythetestedhairlessnessalleleoftheScottishDeerhound.

JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories

OnbehalfofGenoscoperLaboratories,

Page 4: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

Nickname: Treason

Breed: FrenchBulldog

Gender: Male

Owner: AriaWolf

Country: UnitedStates

Testingdate: 2020/6/24

BR13468

Treason,FrenchBulldog

Testresults-Traits-page2

CoatColour-page1Trait Genotype Description

ColourLocusE-Extensions Em/Em Thedogislikelytohaveadarkmask.

ColourLocusB-Brown B/B Thedogisnotlikelytohavebrownpigment.

ColourLocusK-DominantBlack ky/ky ThedogislikelytoexpressthecoatcolourdefinedbythecolourlocusA.

ColourLocusA-Agouti ay/at Thedogisgeneticallysable.Thedogcarriestanpointsorsaddletancolour.

ColourLocusS-Piebaldorextremewhitespotting

S/S Thedogislikelytohavesolidcoatcolourwithminimalwhite.

ColourLocusH-Harlequin h/h Thedogdoesn'thaveharlequinpattern.

ColourLocusD-Dilution(d1allele-markertestavailableforlimitedbreeds)

d/d Thedogislikelytohavedilutecoatcolour.

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

Merle(Mallele) M/m||M*/m

Thedogmayhavemerlepattern.Itcarriesonecopyofa SILVgeneSINEinsertion(eithernormalmerle,atypicalmerle,crypticmerleorharlequinmerle).

SaddleTan(RALYgenedupl.) -/dup ThedogmayhavesaddletanpatternifithasalsotanpointgenotypeattheAlocus.

JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories

OnbehalfofGenoscoperLaboratories,

Page 5: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

Nickname: Treason

Breed: FrenchBulldog

Gender: Male

Owner: AriaWolf

Country: UnitedStates

Testingdate: 2020/6/24

BR13468

Treason,FrenchBulldog

Testresults-Traits-page3

CoatColour-page2Trait Genotype Description

Albinism(caL-allele) C/C Thedogdoesnotcarrythetestedmutationforalbinism.

JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories

OnbehalfofGenoscoperLaboratories,

Page 6: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

Nickname: Treason

Breed: FrenchBulldog

Gender: Male

Owner: AriaWolf

Country: UnitedStates

Testingdate: 2020/6/24

BR13468

Treason,FrenchBulldog

Testresults-Traits-page4

BodySizeTrait Genotype Description

IGF1(chr15:41221438)

A/A Thedogishomozygousforthederivedalleletypicallyassociatedwithsmallbodymass.

IGF1Rc.611G>A(p.Arg204His)

G/G Thedogcarriestwoancestralallelestypicallyfoundinlarger-sizedbreeds.

ACSL4chrX.82919525C>T

C/C Thedogdoesn’thavethealleleassociatedwithlargeskeletalsizeandheavymusclingwithconsiderablebackfatthickness.

IGSF1p.Asp768Glu A/A Thedoghastwocopiesofthealleleassociatedwithheavymuscling.

IRS4chrX:82296039 G/G Thedogdoesn’thavethealleleassociatedwithlargebodysize.

FGF4insertion D/D Thedogishomozygousfortheancientallele.Thedogislikelytohavelegsofnormallength.

STC2(chr4:39182836)

T/T Thedoghastwocopiesoftheancestralalleleassociatedwithlargerbodysize.

GHR1(p.Glu191Lys) A/A Thedogishomozygousforthederivedalleleassociatedwithreducedbodysize.

GHR2(p.Pro177Leu) C/C Thedoghastwocopiesoftheancestralalleleassociatedwithlargerbodysize.

HMGA2(chr10:8348804)

G/G Thedoghastwocopiesoftheancestralalleleassociatedwithlargerbodysize.

JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories

OnbehalfofGenoscoperLaboratories,

Page 7: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

Nickname: Treason

Breed: FrenchBulldog

Gender: Male

Owner: AriaWolf

Country: UnitedStates

Testingdate: 2020/6/24

BR13468

Treason,FrenchBulldog

Testresults-Traits-page5

MorphologyTrait Genotype Description

BMP3c.1344C>A(p.Phe448Leu)

A/A Thedogcarriestwocopiesofthetestedalleletypicallyassociatedwithshortenedhead(brachycephaly).

SMOC2 I/I Thedogcarriestwocopiesofthetestedalleletypicallyassociatedwithshortenedhead(brachycephaly).

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.

JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories

OnbehalfofGenoscoperLaboratories,

Page 8: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

BR13468

Treason,FrenchBulldog

Testresults-Additionaldisordersfoundinotherbreeds-page1

BloodDisorders-page1Disorder ModeofInheritance Result

BleedingdisorderduetoP2RY12defect AutosomalRecessive Clear

CanineCyclicNeutropenia,CyclicHematopoiesis,GreyCollieSyndrome,(CN)

AutosomalRecessive Clear

CanineLeukocyteAdhesionDeficiency(CLAD),typeIII AutosomalRecessive Clear

CanineScottSyndrome,(CSS) AutosomalRecessive Clear

FactorIXDeficiencyorHemophiliaB;mutationGly379Glu X-linkedRecessive Clear

FactorIXDeficiencyorHemophiliaB;mutationoriginallyfoundinAiredaleTerrier

X-linkedRecessive Clear

FactorIXDeficiencyorHemophiliaB;mutationoriginallyfoundinLhasaApso

X-linkedRecessive Clear

FactorVIIDeficiency AutosomalRecessive Clear

FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinBoxer X-linkedRecessive Clear

FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinGermanShepherdDog

X-linkedRecessive Clear

FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinHavanese

X-linkedRecessive Clear

FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinOldEnglishSheepdog

X-linkedRecessive Clear

FactorVIIIDeficiencyorHemophiliaA;p.Cys548TyrmutationoriginallyfoundinGermanShepherd

X-linkedRecessive Clear

FactorXIDeficiency AutosomalDominant(IncompletePenetrance)

Clear

FamilialCongenitalMethemoglobinemia;mutationoriginallyfoundinPomeranian

AutosomalRecessive Clear

GlanzmannThrombastheniaTypeI,(GT);mutationoriginallyfoundinPyreneanMountainDog

AutosomalRecessive Clear

GlanzmannThrombastheniaTypeI,(GT);mutationoriginallyfoundinmixedbreeddogs

AutosomalRecessive Clear

HereditaryElliptocytosis Clear

HereditaryPhosphofructokinase(PFK)Deficiency AutosomalRecessive Clear

Macrothrombocytopenia;disease-linkedvariantoriginallyfoundinNorfolkandCairnTerrier

AutosomalRecessive Clear

May-HegglinAnomaly(MHA) AutosomalDominant Clear

Page 9: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

BR13468

Treason,FrenchBulldog

Testresults-Additionaldisordersfoundinotherbreeds-page2

BloodDisorders-page2Disorder ModeofInheritance Result

PrekallikreinDeficiency AutosomalRecessive Clear

PyruvateKinaseDeficiency;mutationoriginallyfoundinBasenji AutosomalRecessive Clear

PyruvateKinaseDeficiency;mutationoriginallyfoundinBeagle AutosomalRecessive Clear

PyruvateKinaseDeficiency;mutationoriginallyfoundinPug AutosomalRecessive Clear

PyruvateKinaseDeficiency;mutationoriginallyfoundinWestHighlandWhiteTerrier

AutosomalRecessive Clear

TrappedNeutrophilSyndrome,(TNS) AutosomalRecessive Clear

VonWillebrand'sDisease(vWD)Type1 AutosomalRecessive Clear

VonWillebrand'sDisease(vWD)Type2 AutosomalRecessive Clear

VonWillebrand'sDisease(vWD)Type3;mutationoriginallyfoundinKooikerhondje

AutosomalRecessive Clear

VonWillebrand'sDisease(vWD)Type3;mutationoriginallyfoundinScottishTerrier

AutosomalRecessive Clear

VonWillebrand'sDisease(vWD)Type3;mutationoriginallyfoundinShetlandSheepdog

AutosomalRecessive Clear

Page 10: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

BR13468

Treason,FrenchBulldog

Testresults-Additionaldisordersfoundinotherbreeds-page3

OcularDisorders-page1Disorder ModeofInheritance Result

CanineMultifocalRetinopathy2,(CMR2);mutationoriginallyfoundinCotondeTulear

AutosomalRecessive Clear

CanineMultifocalRetinopathy3,(CMR3);mutationoriginallyfoundinLapponianHerder

AutosomalRecessive Clear

ConeDegeneration,(CD)orAchromatopsia;mutationoriginallyfoundinAlaskanMalamute

AutosomalRecessive Clear

ConeDegeneration,(CD)orAchromatopsia;mutationoriginallyfoundinGermanShepherdDog

AutosomalRecessive Clear

ConeDegeneration,(CD)orAchromatopsia;mutationoriginallyfoundinGermanShorthairedPointer

AutosomalRecessive Clear

Cone-RodDystrophy1,(crd1);mutationoriginallyfoundinAmericanStaffordshireTerrier

AutosomalRecessive Clear

Cone-RodDystrophy2,(crd2);mutationoriginallyfoundinAmericanPitBullTerrier

AutosomalRecessive Clear

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

Clear

Cone-RodDystrophy,StandardWirehairedDachshund,(crdSWD) AutosomalRecessive Clear

CongenitalEyeDisease;mutationoriginallyfoundinIrishSoft-CoatedWheatenTerrier

AutosomalRecessive Clear

DominantProgressiveRetinalAtrophy,(DPRA) AutosomalDominant Clear

EarlyOnsetPRA(EOPRA);mutationoriginallyfoundinPortugueseWaterDog

AutosomalRecessive Clear

EarlyRetinalDegeneration,(erd);mutationoriginallyfoundinNorwegianElkhound

AutosomalRecessive Clear

GeneralizedProgressiveRetinalAtrophy AutosomalRecessive Clear

GoldenRetrieverProgressiveRetinalAtrophy1,(GR_PRA1) AutosomalRecessive Clear

Goniodysgenesisandglaucoma;mutationoriginallyfoundinBorderCollie AutosomalRecessive Clear

ItalianGreyhoundProgressiveRetinalAtrophy1(IG-PRA1) AutosomalRecessive Clear

PrimaryHereditaryCataract,(PHC);mutationoriginallyfoundinAustralianShepherd

AutosomalDominant(IncompletePenetrance)

Clear

PrimaryLensLuxation,(PLL) AutosomalRecessive Clear

PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinBassetFauvedeBretagne

AutosomalRecessive Clear

PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinBeagle

AutosomalRecessive Clear

Page 11: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

BR13468

Treason,FrenchBulldog

Testresults-Additionaldisordersfoundinotherbreeds-page4

OcularDisorders-page2Disorder ModeofInheritance Result

PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinNorwegianElkhound

AutosomalRecessive Clear

PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinPetitBassetGriffonVendeen

AutosomalRecessive Clear

Primarylensluxation(PLL)andglaucoma;mutationoriginallyfoundinSharPei

AutosomalRecessive Clear

ProgressiveRetinalAtrophy(PRA4);mutationoriginallyfoundinLhasaApso

AutosomalRecessive Clear

ProgressiveRetinalAtrophyTypeIII,(PRAtypeIII);mutationoriginallyfoundinTibetanSpanielandTibetanTerrier

AutosomalRecessive Clear

ProgressiveRetinalAtrophy,(CNGA1-PRA);mutationoriginallyfoundinShetlandSheepdog

AutosomalRecessive Clear

ProgressiveRetinalAtrophy,(PAP1_PRA);mutationoriginallyfoundinPapillonandPhalene

AutosomalRecessive Clear

ProgressiveRetinalAtrophy,(PRA);mutationoriginallyfoundinBasenji AutosomalRecessive Clear

ProgressiveRetinalAtrophy,(PRA);mutationoriginallyfoundinSwedishVallhund

AutosomalRecessive Clear

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

Page 12: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

BR13468

Treason,FrenchBulldog

Testresults-Additionaldisordersfoundinotherbreeds-page5

EndocrineDisordersDisorder ModeofInheritance Result

CongenitalDyshormonogenicHypothyroidismwithGoiter;mutationoriginallyfoundinShihTzu

AutosomalRecessive Clear

CongenitalHypothyroidism;mutationoriginallyfoundinTenterfieldTerrier AutosomalRecessive Clear

CongenitalHypothyroidism;mutationoriginallyfoundinToyFoxandRatTerrier

AutosomalRecessive Clear

ImmunologicalDisordersDisorder ModeofInheritance Result

AutosomalRecessiveSevereCombinedImmunodeficiency,(ARSCID) AutosomalRecessive Clear

Complement3(C3)Deficiency AutosomalRecessive Clear

MyeloperoxidaseDeficiency AutosomalRecessive Clear

SevereCombinedImmunodeficiencyinFrisianWaterDogs,(SCID) AutosomalRecessive Clear

X-LinkedSevereCombinedImmunodeficiency(XSCID);mutationoriginallyfoundinBassetHound

X-linkedRecessive Clear

X-LinkedSevereCombinedImmunodeficiency(XSCID);mutationoriginallyfoundinCardiganWelshCorgi

X-linkedRecessive Clear

Page 13: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

BR13468

Treason,FrenchBulldog

Testresults-Additionaldisordersfoundinotherbreeds-page6

RenalDisordersDisorder ModeofInheritance Result

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

CysticRenalDysplasiaandHepaticFibrosis;mutationoriginallyfoundinNorwichTerrier

AutosomalRecessive Clear

CystinuriaTypeI-A;mutationoriginallyfoundinNewfoundlandDog AutosomalRecessive Clear

CystinuriaTypeII-A;mutationoriginallyfoundinAustralianCattleDog AutosomalDominant Clear

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

X-linkedRecessive Clear

Xanthinuria,Type1a;mutationoriginallyfoundinmixedbreeddogs AutosomalRecessive Clear

Xanthinuria,Type2a;mutationoriginallyfoundinToyManchesterTerrier AutosomalRecessive Clear

Xanthinuria,Type2b;mutationoriginallyfoundinCavalierKingCharlesSpanielandEnglishCockerSpaniel

AutosomalRecessive Clear

Page 14: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

BR13468

Treason,FrenchBulldog

Testresults-Additionaldisordersfoundinotherbreeds-page7

MetabolicDisordersDisorder ModeofInheritance Result

GlycogenStorageDiseaseTypeIIorPompe'sDisease,(GSDII) AutosomalRecessive Clear

GlycogenStorageDiseaseTypeIIIa,(GSDIIIa) AutosomalRecessive Clear

GlycogenStorageDiseaseTypeIa,(GSDIa) AutosomalRecessive Clear

HypocatalasiaorAcatalasemia AutosomalRecessive Clear

IntestinalCobalaminMalabsorptionorImerslund-GräsbeckSyndrome,(IGS);mutationoriginallyfoundinBeagle

AutosomalRecessive Clear

IntestinalCobalaminMalabsorptionorImerslund-GräsbeckSyndrome,(IGS);mutationoriginallyfoundinBorderCollie

AutosomalRecessive Clear

MucopolysaccharidosisTypeIIIA,(MPSIIIA);mutationoriginallyfoundinDachshund

AutosomalRecessive Clear

MucopolysaccharidosisTypeIIIA,(MPSIIIA);mutationoriginallyfoundinNewZealandHuntaway

AutosomalRecessive Clear

MucopolysaccharidosisTypeVII,(MPSVII);mutationoriginallyfoundinBrazilianTerrier

AutosomalRecessive Clear

MucopolysaccharidosisTypeVII,(MPSVII);mutationoriginallyfoundinGermanShepherd

AutosomalRecessive Clear

PyruvateDehydrogenasePhosphatase1(PDP1)Deficiency AutosomalRecessive Clear

Page 15: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

BR13468

Treason,FrenchBulldog

Testresults-Additionaldisordersfoundinotherbreeds-page8

MuscularDisordersDisorder ModeofInheritance Result

CavalierKingCharlesSpanielMuscularDystrophy,(CKCS-MD) X-linkedRecessive Clear

CentronuclearMyopathy,(CNM);mutationoriginallyfoundinGreatDane AutosomalRecessive Clear

CentronuclearMyopathy,(CNM);mutationoriginallyfoundinLabradorRetriever

AutosomalRecessive Clear

DuchenneorDystrophinMuscularDystrophy,(DMD);mutationoriginallyfoundinGoldenRetriever

X-linkedRecessive Clear

DuchenneorDystrophinMuscularDystrophy,(DMD);mutationoriginallyfoundinNorfolkTerrier

X-linkedRecessive Clear

MuscularDystrophy,Ullrich-type;mutationoriginallyfoundinLandseer AutosomalRecessive Clear

Myostatindeficiency(DoubleMuscling,"Bully") AutosomalRecessive Clear

MyotoniaCongenita;mutationoriginallyfoundinAustralianCattleDog AutosomalRecessive Clear

MyotubularMyopathy;mutationoriginallyfoundinRottweiler X-linkedRecessive Clear

NemalineMyopathy;mutationoriginallyfoundinAmericanBulldog AutosomalRecessive Clear

X-LinkedMyotubularMyopathy X-linkedRecessive Clear

Page 16: Test results - New potential disorders in the breed...American Hairless Terrier. SGK3 c.137_138insT (p.Glu47Glyfs) D/D The dog does not carry the tested hairlessness allele of the

OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories

Laboratories

BR13468

Treason,FrenchBulldog

Testresults-Additionaldisordersfoundinotherbreeds-page9

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

AutosomalRecessive Clear

CerebralDysfunction;mutationoriginallyfoundinFriesianStabyhoun AutosomalRecessive Clear

Dandy-Walker-LikeMalformation(DWLM);mutationoriginallyfoundinEurasier

AutosomalRecessive Clear

Early-OnsetProgressivePolyneuropathy;mutationoriginallyfoundinAlaskanMalamute

AutosomalRecessive Clear

FetalOnsetNeuroaxonalDystrophy,(FNAD) AutosomalRecessive Clear

HereditaryAtaxiaorCerebellarAtaxia;mutationoriginallyfoundinOldEnglishSheepdogandGordonSetter

AutosomalRecessive Clear

HereditaryAtaxia;mutationoriginallyfoundininNorwegianBuhund AutosomalRecessive Clear

HyperekplexiaorStartleDisease AutosomalRecessive Clear

Hypomyelination;mutationoriginallyfoundinWeimaraner AutosomalRecessive Clear

JuvenileMyoclonicEpilepsy,(JME);mutationoriginallyfoundinRhodesianRidgeback

AutosomalRecessive Clear

Juvenileencephalopathy;mutationoriginallyfoundinParsonRussellTerrier

AutosomalRecessive Clear

L-2-Hydroxyglutaricaciduria,(L2HGA);mutationoriginallyfoundinStaffordshireBullTerrier

AutosomalRecessive Clear

L-2-Hydroxyglutaricaciduria,(L2HGA);mutationoriginallyfoundinWestHighlandWhiteTerrier

AutosomalRecessive Clear

LagottoStorageDisease,(LSD) AutosomalRecessive Clear

NeonatalCerebellarCorticalDegenerationorCerebellarAbiotrophy,(NCCD)

AutosomalRecessive Clear

NeonatalEncephalopathywithSeizures,(NEWS) AutosomalRecessive Clear

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NeurologicalDisorders-page2Disorder ModeofInheritance Result

NeuroaxonalDystrophy(NAD);mutationoriginallyfoundinRottweiler AutosomalRecessive Clear

NeuroaxonalDystrophy(NAD);mutationoriginallyfoundinSpanishWaterDog

AutosomalRecessive Clear

NeuroaxonalDystrophy,(NAD);mutationoriginallyfoundinPapillon AutosomalRecessive Clear

NeuronalCeroidLipofuscinosis1,(NCL1);mutationoriginallyfoundinDachshund

AutosomalRecessive Clear

NeuronalCeroidLipofuscinosis10,(NCL10);mutationoriginallyfoundinAmericanBulldog

AutosomalRecessive Clear

NeuronalCeroidLipofuscinosis8,(NCL8);mutationoriginallyfoundinAlpineDachsbracke

AutosomalRecessive Clear

NeuronalCeroidLipofuscinosis8,(NCL8);mutationoriginallyfoundinAustralianShepherd

AutosomalRecessive Clear

NeuronalCeroidLipofuscinosis8,(NCL8);mutationoriginallyfoundinEnglishSetter

AutosomalRecessive Clear

NeuronalCeroidLipofuscinosis,(NCL7);mutationoriginallyfoundinChineseCrestedDogandChihuahua

AutosomalRecessive Clear

Polyneuropathywithocularabnormalitiesandneuronalvacuolation,(POANV);mutationoriginallyfoundinBlackRussianTerrier

AutosomalRecessive Clear

ProgressiveEarly-OnsetCerebellarAtaxia;mutationoriginallyfoundinFinnishHound

AutosomalRecessive Clear

SensoryNeuropathy;mutationoriginallyfoundinBorderCollie AutosomalRecessive Clear

ShakingPuppySpongiformLeucoEncephaloMyelopathy,(SLEM);mutationoriginallyfoundinBorderTerrier

AutosomalRecessive Clear

SpinocerebellarAtaxiawithMyokymiaand/orSeizures(SCA) AutosomalRecessive Clear

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

SpongyDegenerationwithCerebellarAtaxia,(SDCA1);mutationoriginallyfoundinBelgianShepherdDog

AutosomalRecessive Clear

SpongyDegenerationwithCerebellarAtaxia,(SDCA2);mutationoriginallyfoundinBelgianShepherdDog

AutosomalRecessive Clear

X-LinkedTremors;mutationoriginallyfoundinEnglishSpringerSpaniel X-linkedRecessive Clear

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Testresults-Additionaldisordersfoundinotherbreeds-page11

NeuromuscularDisordersDisorder ModeofInheritance Result

CongenitalMyasthenicSyndrome(CMS);mutationoriginallyfoundinLabradorRetriever

AutosomalRecessive Clear

CongenitalMyasthenicSyndrome,(CMS);mutationoriginallyfoundinJackRussellTerrier

AutosomalRecessive Clear

CongenitalMyasthenicSyndrome,(CMS);mutationoriginallyfoundinOldDanishPointingDog

AutosomalRecessive Clear

EpisodicFallingSyndrome,(EFS) AutosomalRecessive Clear

Exercise-InducedCollapse,(EIC) AutosomalRecessive(IncompletePenetrance)

Clear

GM1Gangliosidosis;mutationoriginallyfoundinPortugueseWaterDog AutosomalRecessive Clear

GM2Gangliosidosis,mutationoriginallyfoundinJapaneseChin AutosomalRecessive Clear

GM2Gangliosidosis;mutationoriginallyfoundinToyPoodle AutosomalRecessive Clear

GloboidCellLeukodystrophyorKrabbeDisease,(GLD);mutationoriginallyfoundinIrishSetter

AutosomalRecessive Clear

GloboidCellLeukodystrophyorKrabbeDisease,(GLD);mutationoriginallyfoundinTerriers

AutosomalRecessive Clear

ParoxysmalDyskinesia,(PxD);mutationoriginallyfoundinIrishSoftCoatedWheatenTerrier

AutosomalRecessive Clear

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SkeletalDisordersDisorder ModeofInheritance Result

Chondrodysplasia;mutationoriginallyfoundinNorwegianElkhoundandKarelianBearDog

AutosomalRecessive Clear

CleftPalate;CleftLipandPalatewithSyndactyly;ADAMTS20genemutationoriginallyfoundinNovaScotiaDuckTollingRetriever

AutosomalRecessive Clear

CleftPalate;DLX6genemutationoriginallyfoundinNovaScotiaDuckTollingRetriever

AutosomalRecessive Clear

CraniomandibularOsteopathy,(CMO);mutationassociatedwithterrierbreeds

AutosomalDominant(IncompletePenetrance)

Clear

HereditaryVitaminD-ResistantRickets,(HVDRR) AutosomalRecessive Clear

Osteochondrodysplasia;mutationoriginallyfoundinMiniaturePoodle AutosomalRecessive Clear

Osteochondromatosis;mutationoriginallyfoundinAmericanStaffordshireTerrier

AutosomalDominant Clear

OsteogenesisImperfecta,(OI);mutationoriginallyfoundinBeagle AutosomalDominant Clear

OsteogenesisImperfecta,(OI);mutationoriginallyfoundinDachshund AutosomalRecessive Clear

SkeletalDisease(Hypophosphatasia);mutationoriginallyfoundinKarelianBearDog

AutosomalRecessive Clear

SkeletalDysplasia2,(SD2) AutosomalRecessive Clear

SpondylocostalDysostosis AutosomalRecessive Clear

VandenEnde-GuptaSyndrome,(VDEGS) AutosomalRecessive Clear

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DermalDisordersDisorder ModeofInheritance Result

DystrophicEpidermolysisBullosa;mutationoriginallyfoundinCentralAsianOvcharka

AutosomalRecessive Clear

DystrophicEpidermolysisBullosa;mutationoriginallyfoundinGoldenRetriever

AutosomalRecessive Clear

EpidermolyticHyperkeratosis AutosomalRecessive Clear

FocalNon-EpidermolyticPalmoplantarKeratoderma,(FNEPPK);mutationoriginallyfoundinDoguedeBordeaux

AutosomalRecessive Clear

HereditaryFootpadHyperkeratosis,(HFH) AutosomalRecessive Clear

HereditaryNasalParakeratosis,(HNPK);mutationoriginallyfoundinGreyhound

AutosomalRecessive Clear

Ichthyosis;mutationoriginallyfoundinAmericanBulldog AutosomalRecessive Clear

Ichthyosis;mutationoriginallyfoundinGreatDane AutosomalRecessive Clear

LamellarIchthyosis,(LI) AutosomalRecessive Clear

LethalAcrodermatitis,(LAD);mutationoriginallyfoundininBullTerrierandMiniatureBullTerrier

AutosomalRecessive Clear

LigneousMembranitis AutosomalRecessive Clear

Musladin-Luekesyndrome,(MLS) AutosomalRecessive Clear

X-LinkedEctodermalDysplasia,(XHED) X-linkedRecessive Clear

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Testresults-Additionaldisordersfoundinotherbreeds-page14

OtherDisordersDisorder ModeofInheritance Result

AcuteRespiratoryDistressSyndrome,(ARDS);mutationoriginallyfoundinDalmatian

AutosomalRecessive Clear

AmelogenesisImperfecta,(AI);mutationoriginallyfoundinItalianGreyhound

AutosomalRecessive Clear

AmelogenesisImperfecta,(AI);mutationoriginallyfoundinParsonRussellTerrier

AutosomalRecessive Clear

CongenitalKeratoconjunctivitisSiccaandIchthyosiformDermatosis,(CKCSID)

AutosomalRecessive Clear

DentalHypomineralisation;mutationoriginallyfoundinBorderCollie AutosomalRecessive Clear

LungDevelopmentalDisease;mutationoriginallyfoundininAiredaleTerrier

AutosomalRecessive Clear

Narcolepsy;mutationoriginallyfoundinDachshund AutosomalRecessive Clear

Narcolepsy;mutationoriginallyfoundinLabradorRetriever AutosomalRecessive Clear

PersistentMüllerianDuctSyndrome,(PMDS);mutationoriginallyfoundinMiniatureSchnauzer

AutosomalRecessive Clear

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.

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TermsandConditions

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