laboratories...kb/ky || kb/kbr || kbr/ky || kbr/kbr the dog is genetically dominant black or...
TRANSCRIPT
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
RegisteredName: Spot
Nickname: Spot
RegistrationID: ABCA429456
Microchip: 985112007062117
Breed: BorderCollie
Gender: Male
Owner: KimRussell
Country: UnitedStates
Testingdate: 2020/1/23
BR11085
Spot,BorderCollie
Testresults-Knowndisordersinthebreed
Disorder Type ModeofInheritance Result
DegenerativeMyelopathy,(DM;SOD1A) NeurologicalDisorders
AutosomalRecessive(IncompletePenetrance)
Clear
DentalHypomineralisation;mutationoriginallyfoundinBorderCollie
OtherDisorders
AutosomalRecessive Clear
EarlyAdultOnsetDeafness(EAOD)inBorderCollies(linkedmarkertest)
OtherDisorders
AutosomalRecessive(IncompletePenetrance)
Clear
Goniodysgenesisandglaucoma;mutationoriginallyfoundinBorderCollie
OcularDisorders
AutosomalRecessive Clear
IntestinalCobalaminMalabsorptionorImerslund-GräsbeckSyndrome,(IGS);mutationoriginallyfoundinBorderCollie
MetabolicDisorders
AutosomalRecessive Clear
SensoryNeuropathy;mutationoriginallyfoundinBorderCollie
NeurologicalDisorders
AutosomalRecessive Clear
TrappedNeutrophilSyndrome,(TNS) BloodDisorders
AutosomalRecessive Clear
JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories
OnbehalfofGenoscoperLaboratories,
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
RegisteredName: Spot
Nickname: Spot
RegistrationID: ABCA429456
Microchip: 985112007062117
Breed: BorderCollie
Gender: Male
Owner: KimRussell
Country: UnitedStates
Testingdate: 2020/1/23
BR11085
Spot,BorderCollie
Testresults-Newpotentialdisordersinthebreed
Disorder Type ModeofInheritance Result
CystinuriaTypeII-A;mutationoriginallyfoundinAustralianCattleDog
RenalDisorders
AutosomalDominant Clear
MyotoniaCongenita;mutationoriginallyfoundinAustralianCattleDog
MuscularDisorders
AutosomalRecessive Clear
Testresultsforpharmacogenetics
Disorder ModeofInheritance Result
Multi-DrugResistance1,(MDR1) AutosomalDominant Clear
JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories
OnbehalfofGenoscoperLaboratories,
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
RegisteredName: Spot
Nickname: Spot
RegistrationID: ABCA429456
Microchip: 985112007062117
Breed: BorderCollie
Gender: Male
Owner: KimRussell
Country: UnitedStates
Testingdate: 2020/1/23
BR11085
Spot,BorderCollie
Testresults-Traits-page1
CoatTypeTrait Genotype Description
CoatLength l/l Thedogisgeneticallylong-haired.
Furnishings/ImproperCoatinPortugueseWaterDogs(markertest)
GG/CC Thedogisnotgeneticallylikelytoexpressfurnishings.
KRT71c.451C>T(p.Arg151Trp)
C/C Thedogdoesnotcarryanycopiesofthetestedallelecausingcurlycoat.Thedogmostlikelyhasnon-curlyhair.
MC5Rc.237A>T C/C Thedogdoesnotcarrythetestedalleleassociatedwithlowshedding.Thisgenotypehasnoeffectonadogwithfurnishings,butnon-wire-haireddogwiththisgenotypeislikelyheavyorseasonalshedder.
SGK3(p.Val96Glyfs) I/I ThedogdoesnotcarrythetestedhairlessnessalleleoftheAmericanHairlessTerrier.
SGK3c.137_138insT(p.Glu47Glyfs)
D/D ThedogdoesnotcarrythetestedhairlessnessalleleoftheScottishDeerhound.
JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories
OnbehalfofGenoscoperLaboratories,
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
RegisteredName: Spot
Nickname: Spot
RegistrationID: ABCA429456
Microchip: 985112007062117
Breed: BorderCollie
Gender: Male
Owner: KimRussell
Country: UnitedStates
Testingdate: 2020/1/23
BR11085
Spot,BorderCollie
Testresults-Traits-page2
CoatColourTrait 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 at/at Thedoghasgeneticallytanpointsorsaddletanpattern.
ColourLocusS-Piebaldorextremewhitespotting
S/S Thedogislikelytohavesolidcoatcolourwithminimalwhite.
ColourLocusH-Harlequin
h/h Thedogdoesn'thaveharlequinpattern.
Dilution(d2allele) D/D Thedogdoesnotcarryanycopiesoftherared2alleleassociatedwithdilutioninChowChow,FrenchBulldog,SloughiandThaiRidgeback.
Merle(Mallele) m/m Thedogisgeneticallynon-merleanddoesnotcarrya SILVgeneSINEinsertion.
SaddleTan(RALYgenedupl.)
dup/dup ThedogmayhavetanpointsifithastanpointgenotypeattheAlocus.
Albinism(caL-allele) C/C Thedogdoesnotcarrythetestedmutationforalbinism.
JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories
OnbehalfofGenoscoperLaboratories,
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
RegisteredName: Spot
Nickname: Spot
RegistrationID: ABCA429456
Microchip: 985112007062117
Breed: BorderCollie
Gender: Male
Owner: KimRussell
Country: UnitedStates
Testingdate: 2020/1/23
BR11085
Spot,BorderCollie
Testresults-Traits-page3
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 C/C Thedogdoesn’thavethealleleassociatedwithheavymuscling
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,
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
RegisteredName: Spot
Nickname: Spot
RegistrationID: ABCA429456
Microchip: 985112007062117
Breed: BorderCollie
Gender: Male
Owner: KimRussell
Country: UnitedStates
Testingdate: 2020/1/23
BR11085
Spot,BorderCollie
Testresults-Traits-page4
MorphologyTrait Genotype Description
BMP3c.1344C>A(p.Phe448Leu)
C/C Thedogdoesnotcarrythetestedalleletypicallyassociatedwithshortenedhead(brachycephaly).Thedogismorelikelytohaveanelongatedhead(dolichocephaly).
SMOC2 A/A
chr10:11072007 T/T Thedogdoesnotcarryanalleletypicallyassociatedwithfloppyears.Thedogismorelikelytohaveprickedthanfloppyears.
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,
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
Testresults-Additionaldisordersfoundinotherbreeds-page3
OcularDisorders-page1Disorder ModeofInheritance Result
CanineMultifocalRetinopathy1,(CMR1);mutationoriginallyfoundinMastiff-relatedbreeds
AutosomalRecessive Clear
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
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
Testresults-Additionaldisordersfoundinotherbreeds-page10
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
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
Testresults-Additionaldisordersfoundinotherbreeds-page12
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
Testresults-Additionaldisordersfoundinotherbreeds-page13
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
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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
LungDevelopmentalDisease;mutationoriginallyfoundininAiredaleTerrier
AutosomalRecessive Clear
Narcolepsy;mutationoriginallyfoundinDachshund AutosomalRecessive Clear
Narcolepsy;mutationoriginallyfoundinLabradorRetriever AutosomalRecessive Clear
PersistentMüllerianDuctSyndrome,(PMDS);mutationoriginallyfoundinMiniatureSchnauzer
AutosomalRecessive Clear
PrimaryCiliaryDyskinesia,(PCD) AutosomalRecessive Clear
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
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.
OPTIMALSELECTION™isaTrademarkofMars,Incorporated.©2018Mars,Incorporated.GENOSCOPER®isaRegisteredTrademarkofGenoscoperLaboratories
Laboratories
BR11085
Spot,BorderCollie
TermsandConditions
block-terms-and-conditions