870023214356718 GammonwoodSiegeMaster,Mastiff RegisteredName: GammonwoodSiegeMaster Owner: JenniferWillshire CallName: Siege RegistrationID: 2100325167 Microchip: 982000123214971 Breed: Mastiff Country: Australia Testingdate: 2014/3/20 DNA Identifiedwithstandard identification ISAG2006markers profile: Gender: Male Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:Yes Testresults-Knowndisordersinthebreed Disorder Type ModeofInheritance Result CanineMultifocalRetinopathy1,(CMR1);Mastiff-related breedsmutation Ocular Disorders AutosomalRecessive Clear DominantProgressiveRetinalAtrophy,(DPRA) Ocular Disorders AutosomalDominant Clear Disorder ModeofInheritance Result MalignantHyperthermia(MH) AutosomalDominant Clear Testresultsforpharmacogenetics OnbehalfofGenoscoperLaboratories, Whenobtainingacarrieroratrisktestresult,we recommendthatyoucontactyourveterinarianformore detailedinformationontheconditionandpossible treatment. JonasDonner,PhD,HeadofResearchandDevelopment atGenoscoperLaboratories 870023214356718 GammonwoodSiegeMaster,Mastiff RegisteredName: GammonwoodSiegeMaster Owner: JenniferWillshire CallName: Siege Country: Australia RegistrationID: 2100325167 Testingdate: 2014/3/20 Microchip: 982000123214971 DNA Identifiedwithstandard identification ISAG2006markers profile: Breed: Mastiff Gender: Male Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:Yes Testresults-Traits-page1 Trait Genotype Description ColorLocusE-Extensions Em/Em Thedogislikelytohaveadarkmask. ColorLocusB-Brown B/B||B/bd|| bd/bd Thedogdoesn'thaveanyofthetestedballelescausingbrown color. ColorLocusK-Dominant Black ky/ky Thedogislikelytoexpressthecoatcolordefinedbythecolor locusA. ColorLocusA-Agouti Nocall ColorLocusH-Harlequin h/h Thedogdoesn'thaveharlequinpattern. OnbehalfofGenoscoperLaboratories, JonasDonner,PhD,HeadofResearchandDevelopment atGenoscoperLaboratories 870023214356718 GammonwoodSiegeMaster,Mastiff RegisteredName: GammonwoodSiegeMaster CallName: Siege Owner: JenniferWillshire Country: Australia RegistrationID: 2100325167 Testingdate: 2014/3/20 Microchip: 982000123214971 DNA Identifiedwithstandard identification ISAG2006markers profile: Breed: Mastiff Gender: Male Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:Yes Testresults-Traits-page2 Trait Genotype Description Furnishings/ImproperCoatin PortugueseWaterDogs (markertest) GG/TT Thedogisnotgeneticallylikelytoexpressfurnishings. Bodymass,insulin-likegrowth G/G factor1(IGF1)genevariant Thedogishomozygousforthegeneticvarianttypicallyassociatedwith largebodymass.Thisgenotypeiscommone.g.inGreatDane, NewfoundlandDogandGreaterSwissMountainDog. Snout/skulllength(shortened headversuselongatedhead), bonemorphogeneticprotein3 (BMP3)genevariant C/C Yourdogishomozygousforthegeneticvarianttypicallyfoundinbreeds withanelongatedhead(e.g.Saluki,Collie,IrishWolfhound). Earerectness(prickedears versusfloppyears),variant chr10:11072007 C/C Yourdogishomozygousfor(carriestwocopiesof)ageneticvariant typicallyassociatedwithfloppyears.Thisgenotypeiscommoninbreeds likeEnglishSpringerSpaniel,Leonberger,Saluki,andDachshunds. Interestingly,theC-alleleofthisvariantistheancestralallelefrequentin wolf. Bobtail C/C Thedogdoesnotcarryanycopyofthebobtailmutation.Itthereforelikely hasalong-tailedphenotype. Curlycoat C/C Thedogisgeneticallynon-curly. Coatlength/ G/G Thedogcarriestwocopiesofthegeneticvarianttypicallyassociatedwith ashort-hairedcoat. Tinysize,insulin-likegrowth G/G factor1receptor(IGF1R)gene variant Yourdogishomozygousforageneticvarianttypicallyfoundinlargersizedbreeds(heightatthewithers>25.4cm(10inches)). OnbehalfofGenoscoperLaboratories, JonasDonner,PhD,HeadofResearchandDevelopment atGenoscoperLaboratories 870023214356718 GammonwoodSiegeMaster,Mastiff Testresults-Additionaldisordersfoundinotherbreeds-page1 BloodDisorders Disorder ModeofInheritance Result BleedingdisorderduetoP2RY12defect AutosomalRecessive Clear CanineCyclicNeutropenia,CyclicHematopoiesis,GrayCollieSyndrome, AutosomalRecessive (CN) Clear FactorIXDeficiencyorHemophiliaB(2mutations) X-linkedRecessive Clear FactorVIIDeficiency AutosomalRecessive Clear FactorVIIIDeficiencyorHemophiliaA;mutationoriginallyfoundin GermanShepherdDog X-linkedRecessive Clear GlanzmannThrombastheniaTypeI,(GT);mutationoriginallyfoundin PyreneanMountainDog AutosomalRecessive Clear HereditaryPhosphofructokinase(PFK)Deficiency AutosomalRecessive Clear May-HegglinAnomaly(MHA) AutosomalDominant Clear PyruvateKinaseDeficiency(4mutations) AutosomalRecessive Clear TrappedNeutrophilSyndrome,(TNS) AutosomalRecessive Clear VonWillebrand'sDisease(vWD)TypeII AutosomalRecessive Nocall 870023214356718 GammonwoodSiegeMaster,Mastiff Testresults-Additionaldisordersfoundinotherbreeds-page2 OcularDisorders Disorder ModeofInheritance Result CanineMultifocalRetinopathy2,(CMR2);mutationoriginallyfoundin CotondeTulear AutosomalRecessive Clear CanineMultifocalRetinopathy3,(CMR3);mutationoriginallyfoundin LapponianHerder AutosomalRecessive Clear ConeDegeneration,(CD)orAchromatopsia;mutationoriginallyfoundin GermanShorthairedPointer AutosomalRecessive Clear Cone-RodDystrophy,(cord1-PRA/crd4) AutosomalRecessive (IncompletePenetrance) Clear Cone-RodDystrophy,StandardWirehairedDachshund,(crdSWD) AutosomalRecessive Clear GeneralizedProgressiveRetinalAtrophy AutosomalRecessive Clear GoldenRetrieverProgressiveRetinalAtrophy1,(GR_PRA1) AutosomalRecessive Clear PrimaryHereditaryCataract(PHC);mutationoriginallyfoundinAustralian Shepherd AutosomalDominant (IncompletePenetrance) Clear PrimaryLensLuxation,(PLL) AutosomalRecessive Clear PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundin Beagle AutosomalRecessive Clear Rod-ConeDysplasia1,(rcd1)andRod-ConeDysplasia1a,(rdc1a)(2 mutations) AutosomalRecessive Clear Rod-ConeDysplasia3,(rcd3) AutosomalRecessive Clear X-LinkedProgressiveRetinalAtrophy1,(XLPRA1) X-linkedRecessive Clear X-LinkedProgressiveRetinalAtrophy2,(XLPRA2) X-linkedRecessive Nocall 870023214356718 GammonwoodSiegeMaster,Mastiff Testresults-Additionaldisordersfoundinotherbreeds-page3 EndocrineDisorders Disorder ModeofInheritance Result CongenitalHypothyroidism;mutationoriginallyfoundinToyFox-andRat Terrier AutosomalRecessive Clear Disorder ModeofInheritance Result Complement3(C3)Deficiency AutosomalRecessive Clear X-linkedSevereCombinedImmunodeficiency(XSCID)(2mutations) X-linkedRecessive Clear ImmunologicDisorders 870023214356718 GammonwoodSiegeMaster,Mastiff Testresults-Additionaldisordersfoundinotherbreeds-page4 RenalDisorders Disorder ModeofInheritance Result Hyperuricosuria,(HUU) AutosomalRecessive Clear PolycysticKidneyDiseaseinBullTerriers,(BTPKD) AutosomalDominant Clear PrimaryHyperoxaluria,(PH);mutationoriginallyfoundinCotondeTulear AutosomalRecessive Clear X-LinkedHereditaryNephropathy,(XLHN) X-linkedRecessive Clear 870023214356718 GammonwoodSiegeMaster,Mastiff Testresults-Additionaldisordersfoundinotherbreeds-page5 MetabolicDisorders Disorder ModeofInheritance Result GlycogenStorageDiseaseTypeIIorPompe'sDisease,(GSDII) AutosomalRecessive Clear GlycogenStorageDiseaseTypeIIIa,(GSDIIIa) AutosomalRecessive Clear GlycogenStorageDiseaseTypeIa,(GSDIa) AutosomalRecessive Clear HypocatalasiaorAcatalasemia AutosomalRecessive Clear MucopolysaccharidosisType3A,(MPSIIIA);mutationoriginallyfoundin Dachshund AutosomalRecessive Clear MucopolysaccharidosisTypeVII,(MPSVII);mutationoriginallyfoundin BrazilianTerrier AutosomalRecessive Clear PyruvateDehydrogenasePhosphatase1(PDP1)Deficiency AutosomalRecessive Clear Disorder ModeofInheritance Result CavalierKingCharlesSpanielMuscularDystrophy(CKCS-MD) X-linkedRecessive Clear DuchenneorDystrophinMuscularDystrophy,(DMD) X-linkedRecessive Clear MyotoniaCongenita;mutationoriginallyfoundinMiniatureSchnauzer AutosomalRecessive Clear X-LinkedMyotubularMyopathy X-linkedRecessive Clear MuscularDisorders 870023214356718 GammonwoodSiegeMaster,Mastiff Testresults-Additionaldisordersfoundinotherbreeds-page6 NeurologicDisorders Disorder ModeofInheritance Result Adult-OnsetNeuronalCeroidLipofuscinosis,(Adult-onsetNCL),mutation originallyfoundinTibetanterrier AutosomalRecessive Clear Bandera'sNeonatalAtaxia,(BNAt) AutosomalRecessive Nocall BenignFamilialJuvenileEpilepsyorRemittingFocalEpilepsy AutosomalRecessive Clear Early-OnsetProgressivePolyneuropathy(2mutations) AutosomalRecessive Clear FetalOnsetNeuroaxonalDystrophy,(FNAD) AutosomalRecessive Clear HyperekplexiaorStartleDisease AutosomalRecessive Clear L-2-Hydroxyglutaricaciduria,(L2HGA);mutation1originallyfoundin StaffordshireBullTerrier AutosomalRecessive Clear NeonatalCerebellarCorticalDegenerationorCerebellarAbiotrophy, (NCCD) AutosomalRecessive Clear NeonatalEncephalopathywithSeizures,(NEWS) AutosomalRecessive Clear NeuronalCeroidLipofuscinosisType1,(NCL1) AutosomalRecessive Clear NeuronalCeroidLipofuscinosisType10,(NCL10) AutosomalRecessive Clear Progressiveearly-onsetcerebellarataxia;mutationoriginallyfoundin FinnishHound AutosomalRecessive Clear 870023214356718 GammonwoodSiegeMaster,Mastiff Testresults-Additionaldisordersfoundinotherbreeds-page7 NeuromuscularDisorders Disorder ModeofInheritance Result EpisodicFalling,(EF) AutosomalRecessive Clear GM1Gangliosidosis(3mutations) AutosomalRecessive Clear GM2Gangliosidosis;mutationoriginallyfoundinToyPoodle AutosomalRecessive Clear GloboidCellLeukodystrophyorKrabbe'sDisease,(GLD);Terriermutation AutosomalRecessive Clear SkeletalDisorders Disorder ModeofInheritance Result Chondrodysplasia;mutationoriginallyfoundinNorwegianElkhoundand KarelianBearDog AutosomalRecessive Clear CraniomandibularOsteopathy,(CMO) AutosomalDominant (IncompletePenetrance) Clear OsteogenesisImperfecta,(OI)orBrittleBoneDisease;mutationoriginally foundinDachshund AutosomalRecessive Clear SkeletalDysplasia2,(SD2) AutosomalRecessive Clear 870023214356718 GammonwoodSiegeMaster,Mastiff Testresults-Additionaldisordersfoundinotherbreeds-page8 DermalDisorders Disorder ModeofInheritance Result DystrophicEpidermolysisBullosa AutosomalRecessive Clear EpidermolyticHyperkeratosis AutosomalRecessive Clear Musladin-Luekesyndrome,(MLS) AutosomalRecessive Clear Disorder ModeofInheritance Result CongenitalKeratoconjunctivitisSiccaandIchthyosiformDermatosis, (CKCSID) AutosomalRecessive Clear Narcolepsy;mutationoriginallyfoundinDobermanPinscher AutosomalRecessive Clear PersistentMüllerianDuctSyndrome,(PMDS);mutationoriginallyfoundin AutosomalRecessive MiniatureSchnauzer Clear PrimaryCiliaryDyskinesia,(PCD) Clear OtherDisorders AutosomalRecessive 870023214356718 GammonwoodSiegeMaster,Mastiff APPENDIX Explanationoftheresultsofthetesteddisorders Autosomalrecessiveinheritance(ARI) Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdevelopingandpassingonthe disease/condition. Carrier-Adogcarriesonecopyofthetestedmutation.Carrierstypicallyhaveanormal,healthyappearancebutpassonthe mutationtoapproximately50%oftheiroffspring. Atrisk-Adogcarriestwocopiesofthetestedmutationandisathighorincreasedriskofdevelopingthedisease/condition. Autosomaldominantinheritance(ADI) Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdevelopingandpassingonthe disease/condition. Atrisk-Adogcarriesoneortwocopiesofthetestedmutationandisathighorincreasedriskofdevelopingthe disease/condition. X-linkedrecessiveinheritance(X-linked) Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdevelopingandpassingonthe disease/condition. Carrier-Femalecarrierstypicallyhaveanormal,healthyappearancebutcarryonecopyofthetestedmutationononeoftheirX chromosomes.AsmalesonlyhaveoneXchromosome,therearenomalecarriers. Atrisk-Femaledogsatriskcarrytwomutatedcopiesofthetestedmutation.Malescarryonecopyofthetestedmutationon theirsingleXchromosome.Dogsatriskareathighorincreasedriskofdevelopingthedisease/condition. Pleasenotethatthedescriptionsabovearegeneralizedbasedontypicallyobservedinheritancepatterns.Whenobtaininga 'carrier'or'atrisk'testresult,alwaysrefertothecorrespondingonlinetestdocumentationformoredetailedinformationonthe conditionandanyexceptions. GenoscoperLaboratories-LegalNotice GenoscoperLaboratories’servicesandtestresultsareproducedbasedonsamplesandmaterialssuppliedbytheClient. TestingandanalysisisperformedbyusingmethodsandprocessesthatGenoscoperLaboratoriesdeemsappropriate. GenoscoperLaboratoriesreservestherighttomakechangesinthecollectionofthesingle-genetestsincludedinthetesting serviceaswellastoremoveresultsderivedfromthem,ifnewinformationcomesavailablethatinanywayquestionsthevalidity ofthetestresults.ResultsprovidedbyGenoscoperLaboratoriesarepreparedsolelyfortheuseoftheClient. 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