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Laboratories

CallName: Jenny

Breed: Cockapoo

Gender: Female

Owner: GarySinclair

Country: UnitedStates

Testingdate: 2020/1/23

BR10469

Jenny,Cockapoo

Testresults-Knowndisordersinthebreed

Disorder Type ModeofInheritance Result

DegenerativeMyelopathy,(DM;SOD1A) NeurologicalDisorders AutosomalRecessive(IncompletePenetrance)

Clear

Exercise-InducedCollapse,(EIC) NeuromuscularDisorders

AutosomalRecessive(IncompletePenetrance)

Clear

HereditaryPhosphofructokinase(PFK)Deficiency

BloodDisorders AutosomalRecessive Clear

Testresults-Newpotentialdisordersinthebreed

Disorder Type ModeofInheritance Result

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

Carrier

JonasDonner,PhD,HeadofResearchandDevelopmentatGenoscoperLaboratories

OnbehalfofGenoscoperLaboratories,


Laboratories

CallName: Jenny

Breed: Cockapoo

Gender: Female

Owner: GarySinclair



BR10469

Jenny,Cockapoo

Testresultsforpharmacogenetics

Disorder ModeofInheritance Result

Multi-DrugResistance1,(MDR1)orIvermectinSensitivity AutosomalDominant Clear




Laboratories

CallName: Jenny

Breed: Cockapoo

Gender: Female

Owner: GarySinclair



BR10469

Jenny,Cockapoo

Testresults-Traits-page1

CoatTypeTrait Genotype Description

CoatLength l/l Thedogisgeneticallylong-haired.

Furnishings/ImproperCoatinPortugueseWaterDogs(markertest)

AG/TC Thedogislikelygeneticallyheterozygousatthefurnishingslocus,butmayexpressthephenotype.

KRT71c.451C>T(p.Arg151Trp)

C/T Thedogislikelytohavecurlyhair,ifitislong-haired.Thedogcarriesonecopyofthetestedallelecausingcurlycoat,andmayalsopassonthenon-curlyalleletoitsoffspring.

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

SGK3(p.Val96Glyfs) I/I ThedogdoesnotcarrythetestedhairlessnessalleleoftheAmericanHairlessTerrier.

SGK3c.137_138insT(p.Glu47Glyfs)

D/D ThedogdoesnotcarrythetestedhairlessnessalleleoftheScottishDeerhound.




Laboratories

CallName: Jenny

Breed: Cockapoo

Gender: Female

Owner: GarySinclair



BR10469

Jenny,Cockapoo


CoatColorTrait Genotype Description

ColorLocusE-Extensions e/e Thedoghasrecessiveredcoatcolor.

ColorLocusB-Brown B/B Thedogisnotlikelytohavebrownpigment.

ColorLocusK-DominantBlack

ky/ky ThedogislikelytoexpressthecoatcolordefinedbythecolorlocusA.

ColorLocusA-Agouti aw/a Thedogisgeneticallywolfgray.Thedogcarriesrecessiveblack.

ColorLocusS-Piebaldorextremewhitespotting

S/sp Thedogislikelytohavesolidcoatcolororfewwhitespotsinitscoat.

ColorLocusH-Harlequin h/h Thedogdoesn'thaveharlequinpattern.

Dilution(d2allele) G/G Thedogdoesnotcarryanycopiesoftherared2alleleassociatedwithdilutioninChowChow,SloughiandThaiRidgeback.

Merle(Mallele) m/m Thedogisgeneticallynon-merleanddoesnotcarryaSILVgeneSINEinsertion.

SaddleTan(RALYgenedupl.) -/dup ThedogmayhavesaddletanpatternifithasalsotanpointgenotypeattheAlocus.

Albinism(caL-allele) C/C Thedogdoesnotcarrythetestedmutationforalbinism.




Laboratories

CallName: Jenny

Breed: Cockapoo

Gender: Female

Owner: GarySinclair



BR10469

Jenny,Cockapoo


BodySizeTrait Genotype Description

IGF1(chr15:41221438) A/A Thedogishomozygousforthederivedalleletypicallyassociatedwithsmallbodymass.

IGF1Rc.611G>A(p.Arg204His)

A/G Thedogcarriesonecopyofthederivedalleleandonecopyoftheancestralallele.

ACSL4chrX.82919525C>T

C/C Thedogdoesn’thavethealleleassociatedwithlargeskeletalsizeandheavymusclingwithconsiderablebackfatthickness.

IGSF1p.Asp768Glu A/C Thedoghasonecopyofthealleleassociatedwithheavymuscling.

IRS4chrX:82296039 G/G Thedogdoesn’thavethealleleassociatedwithlargebodysize.

FGF4insertion D/D Thedogishomozygousfortheancientallele.Thedogislikelytohavelegsofnormallength.

STC2(chr4:39182836) A/T Thedogcarriesonecopyofthealleleassociatedwithreducedbodysizeandonecopyofthealleleassociatedwithnosizereduction.

Bodysize,GHR1genevariantE191K

A/G Thedogcarriesoneancestralalleleandonederivedallele.

GHR2(p.Pro177Leu) C/T Thedogcarriesonecopyofthederivedalleleassociatedwithreducedbodysize.

HMGA2 A/G Yourdogcarriesonecopyofthederivedalleleandonecopyoftheancestralallele.Thedogmayhaveabitsmallersize.




Laboratories

CallName: Jenny

Breed: Cockapoo

Gender: Female

Owner: GarySinclair



BR10469

Jenny,Cockapoo


MorphologyTrait Genotype Description

BMP3c.1344C>A(p.Phe448Leu)

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

chr10:11072007 C/T Thedogcarriesonecopyofanalleletypicallyassociatedwithfloppyears,andonecopyofanalleletypicallyassociatedwithprickedears.

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.




Laboratories

BR10469

Jenny,Cockapoo

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


FactorVIIDeficiency AutosomalRecessive Clear

FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinBoxer X-linkedRecessive Clear

FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinGermanShepherdDog


FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinHavanese


FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundinOldEnglishSheepdog


FactorVIIIDeficiencyorHemophiliaA;p.Cys548TyrmutationoriginallyfoundinGermanShepherd


FactorXIDeficiency AutosomalDominant(IncompletePenetrance)

Clear

FamilialCongenitalMethemoglobinemia;mutationoriginallyfoundinPomeranian


GlanzmannThrombastheniaTypeI,(GT);mutationoriginallyfoundinPyreneanMountainDog


GlanzmannThrombastheniaTypeI,(GT);mutationoriginallyfoundinmixedbreeddogs


HereditaryElliptocytosis Clear

Macrothrombocytopenia;disease-linkedvariantoriginallyfoundinNorfolkandCairnTerrier


May-HegglinAnomaly(MHA) AutosomalDominant Clear

PrekallikreinDeficiency AutosomalRecessive Clear


Laboratories

BR10469

Jenny,Cockapoo


BloodDisorders-page2Disorder ModeofInheritance Result

PyruvateKinaseDeficiency;mutationoriginallyfoundinBasenji AutosomalRecessive Clear

PyruvateKinaseDeficiency;mutationoriginallyfoundinBeagle AutosomalRecessive Clear

PyruvateKinaseDeficiency;mutationoriginallyfoundinPug AutosomalRecessive Clear

PyruvateKinaseDeficiency;mutationoriginallyfoundinWestHighlandWhiteTerrier


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



Laboratories

BR10469

Jenny,Cockapoo


OcularDisorders-page1Disorder ModeofInheritance Result

CanineMultifocalRetinopathy1,(CMR1);mutationoriginallyfoundinMastiff-relatedbreeds


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,StandardWirehairedDachshund,(crdSWD) AutosomalRecessive Clear

CongenitalEyeDisease;mutationoriginallyfoundinIrishSoft-CoatedWheatenTerrier


DominantProgressiveRetinalAtrophy,(DPRA) AutosomalDominant Clear

EarlyOnsetPRA(EOPRA);mutationoriginallyfoundinPortugueseWaterDog


EarlyRetinalDegeneration,(erd);mutationoriginallyfoundinNorwegianElkhound


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


PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinBeagle



Laboratories

BR10469

Jenny,Cockapoo


OcularDisorders-page2Disorder ModeofInheritance Result

PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinNorwegianElkhound


PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundinPetitBassetGriffonVendeen


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

QTSyndrome AutosomalDominant Clear


Laboratories

BR10469

Jenny,Cockapoo


EndocrineDisordersDisorder ModeofInheritance Result

CongenitalDyshormonogenicHypothyroidismwithGoiter;mutationoriginallyfoundinShihTzu


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



Laboratories

BR10469

Jenny,Cockapoo


RenalDisordersDisorder ModeofInheritance Result

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

CysticRenalDysplasiaandHepaticFibrosis;mutationoriginallyfoundinNorwichTerrier


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


Xanthinuria,Type1a;mutationoriginallyfoundinmixedbreeddogs AutosomalRecessive Clear

Xanthinuria,Type2a;mutationoriginallyfoundinToyManchesterTerrier AutosomalRecessive Clear

Xanthinuria,Type2b;mutationoriginallyfoundinCavalierKingCharlesSpanielandEnglishCockerSpaniel



Laboratories

BR10469

Jenny,Cockapoo


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


Laboratories

BR10469

Jenny,Cockapoo


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

MuscularHypertrophy(DoubleMuscling) AutosomalRecessive Clear

MyotoniaCongenita;mutationoriginallyfoundinAustralianCattleDog AutosomalRecessive Clear

MyotubularMyopathy;mutationoriginallyfoundinRottweiler X-linkedRecessive Clear

NemalineMyopathy;mutationoriginallyfoundinAmericanBulldog AutosomalRecessive Clear

X-LinkedMyotubularMyopathy X-linkedRecessive Clear


Laboratories

BR10469

Jenny,Cockapoo


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


Early-OnsetProgressivePolyneuropathy;mutationoriginallyfoundinAlaskanMalamute


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

NeonatalCerebellarCorticalDegenerationorCerebellarAbiotrophy,(NCCD)


NeonatalEncephalopathywithSeizures,(NEWS) AutosomalRecessive Clear


Laboratories

BR10469

Jenny,Cockapoo


NeurologicalDisorders-page2Disorder ModeofInheritance Result

NeuroaxonalDystrophy(NAD);mutationoriginallyfoundinRottweiler AutosomalRecessive Clear

NeuroaxonalDystrophy(NAD);mutationoriginallyfoundinSpanishWaterDog


NeuronalCeroidLipofuscinosis1,(NCL1);mutationoriginallyfoundinDachshund


NeuronalCeroidLipofuscinosis10,(NCL10);mutationoriginallyfoundinAmericanBulldog


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


Laboratories

BR10469

Jenny,Cockapoo


NeuromuscularDisordersDisorder ModeofInheritance Result

CongenitalMyasthenicSyndrome(CMS);mutationoriginallyfoundinLabradorRetriever


CongenitalMyasthenicSyndrome,(CMS);mutationoriginallyfoundinJackRussellTerrier


CongenitalMyasthenicSyndrome,(CMS);mutationoriginallyfoundinOldDanishPointingDog


EpisodicFalling,(EF) AutosomalRecessive Clear

GM1Gangliosidosis;mutationoriginallyfoundinPortugueseWaterDog AutosomalRecessive Clear

GM2Gangliosidosis,mutationoriginallyfoundinJapaneseChin AutosomalRecessive Clear

GM2Gangliosidosis;mutationoriginallyfoundinToyPoodle AutosomalRecessive Clear

GloboidCellLeukodystrophyorKrabbeDisease,(GLD);mutationoriginallyfoundinIrishSetter


GloboidCellLeukodystrophyorKrabbeDisease,(GLD);mutationoriginallyfoundinTerriers


ParoxysmalDyskinesia,(PxD);mutationoriginallyfoundinIrishSoftCoatedWheatenTerrier



Laboratories

BR10469

Jenny,Cockapoo


SkeletalDisordersDisorder ModeofInheritance Result

Chondrodysplasia;mutationoriginallyfoundinNorwegianElkhoundandKarelianBearDog


CleftPalate;CleftLipandPalatewithSyndactyly;ADAMTS20genemutationoriginallyfoundinNovaScotiaDuckTollingRetriever


CleftPalate;DLX6genemutationoriginallyfoundinNovaScotiaDuckTollingRetriever


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


SkeletalDysplasia2,(SD2) AutosomalRecessive Clear

SpondylocostalDysostosis AutosomalRecessive Clear

VandenEnde-GuptaSyndrome,(VDEGS) AutosomalRecessive Clear


Laboratories

BR10469

Jenny,Cockapoo


DermalDisordersDisorder ModeofInheritance Result

DystrophicEpidermolysisBullosa;mutationoriginallyfoundinCentralAsianOvcharka


DystrophicEpidermolysisBullosa;mutationoriginallyfoundinGoldenRetriever


EpidermolyticHyperkeratosis AutosomalRecessive Clear

FocalNon-EpidermolyticPalmoplantarKeratoderma,(FNEPPK);mutationoriginallyfoundinDoguedeBordeaux


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


Laboratories

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Jenny,Cockapoo


OtherDisordersDisorder ModeofInheritance Result

AcuteRespiratoryDistressSyndrome,(ARDS);mutationoriginallyfoundinDalmatian


AmelogenesisImperfecta,(AI) AutosomalRecessive Clear

AmelogenesisImperfecta,(AI);mutationoriginallyfoundinParsonRussellTerrier


CongenitalKeratoconjunctivitisSiccaandIchthyosiformDermatosis,(CKCSID)


DentalHypomineralization;mutationoriginallyfoundinBorderCollie AutosomalRecessive Clear

Narcolepsy;mutationoriginallyfoundinDachshund AutosomalRecessive Clear

Narcolepsy;mutationoriginallyfoundinLabradorRetriever AutosomalRecessive Clear

PersistentMüllerianDuctSyndrome,(PMDS);mutationoriginallyfoundinMiniatureSchnauzer


PrimaryCiliaryDyskinesia,(PCD) AutosomalRecessive Clear


Laboratories

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Jenny,Cockapoo

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.


Laboratories

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Jenny,Cockapoo

OPTIMALSELECTION™DNATESTTERMSANDCONDITIONS

OptimalSelection™GeneticBreedingAnalysisisaproprietaryprocessdesignedandintendedtobeusedonpurebreddogssolelyto1)Helpquantifythegeneticcompatibilityofpotentialbreedingpairsand2)ToidentifyspecificallelesorDNAmutationsthatareassociatedwithcertaininheriteddiseasesortraits.Nootherpurposeisauthorizedorpermitted.Itisnotintendedtodiagnosediseasesorpredictbehaviorinanyparticulardog.

Uponreceiptofyourdog’sDNAsample,WisdomHealthwillanalyzeyourdog’sDNAtodeterminechromosomalsimilaritiesanddifferencesinthegeneticprofileofapotentialsireanddamandprovideamatchanalysis.Yourdog’sDNAwillalsobeanalyzedforthepresenceofspecificallelesthatareassociatedwithinheritedconditionsidentifiedasoccurringinyourdog’sbreed.WisdomHealth'stestingproceduresaredesignedtoprovidereliableandaccurateresults,butarenotguaranteed.Bysubmittingyourdog’ssample(s)forOptimalSelection™analysisitisunderstoodthatyouagreethatthesample(s),analysis,resultsandrelatedinformationmaybeusedconfidentiallybyMarsinconjunctionwithothersamplestoincreasetheunderstandingofthebreed’sgeneticstructure,aswellasforinternal,researchanddevelopment,orstatisticalpurposesandmaybesharedwiththirdpartiesforthesepurposes.

SamplesmaybedisposedoforstoredatWisdomHealth’soptionandwillnotbereturned.PleaseviewthefullMarsPrivacyPolicyhere:http://www.mars.com/global/policies/privacy/pp-english.aspxItisalsounderstoodthatfuturereleasesoftheOptimalSelection™testmayrefineresultsasmoreinformationisobtainedregardingthebreedstructureand/orifnewgeneticmarkersareincluded.OptimalSelection™geneticassessmentsforindividualdogsandpotentialmateswillbeavailableonlinetotheperson(s)whoregisteredthesample.Adog’sresults,photoandotherinformationmaybesharedbytheownerwithotherindividualswhomtheychooseortransferredtoanewownerifthedogchangesownership.Thecontentofsuchonlineservices1)maybealteredduetochanges,additions,orremovalsofadog’sinformationintheOptimalSelection™databaseorduetochangesintechnicalorotherdesignofsuchservicesand2)includesinformationaboutthirdpartiesandotherWisdomHealthclients’dogs,whichWisdomHealthisnotresponsibleorliablefor.WisdomHealthhasrighttoterminateaccesstoonlineservicesoneyearfromthepurchasedate,unlessalongerperiodhasbeenagreedupon.

YouagreetoWisdomHealthinstructionsrelatedtoorderingprocess,payment,samplingandsampledelivery.Youalsocertifythattheanimaldescribedinyourorderisthesameanimalwhosesampleissubmittedforanalysis,andthatallinformationisaccurate.YouwarrantthatyouareentitledtoobtainandsupplysamplestoWisdomHealth.Intheunlikelyeventthatitisnotpossibletoprovideananalysis(forexampleduetoaninsufficientDNAsample)orthatanerrorintheanalysisoccurs,liabilitybyWisdomHealthorrelatedcompaniesandindividualsisdisclaimedanddamagesinanyeventarelimitedtothepaymentactuallyreceivedbyWisdomHealthforthespecifiedanalysisatissue.WisdomHealth’sstudyofthecomplexitiesofthecaninegenomeisongoingwiththegoalofcontinuingtoprovidethemostadvancedandcompleteanalysispossible.

WisdomHealthreservestherighttouseanythirdpartyofitschoicetoundertakethetesting,analysisorlaboratoryservicesfortheanalysis.

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