BR00385 SqueakerBalderico,LagottoRomagnolo RegisteredName: SqueakerBalderico Owner: TraceyHarris CallName: Balderico Country: Canada Microchip: 380260042455883 Testingdate: 2016/3/18 Breed: LagottoRomagnolo Gender: Male Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:No Testresults-Knowndisordersinthebreed Disorder Type ModeofInheritance Result BenignFamilialJuvenileEpilepsyorRemittingFocal Epilepsy Neurologic Disorders AutosomalRecessive Clear DegenerativeMyelopathy,(DM) Neurologic Disorders AutosomalRecessive (IncompletePenetrance) Clear Hyperuricosuria,(HUU) RenalDisorders AutosomalRecessive Clear LagottoStorageDisease,(LSD) Neurologic Disorders AutosomalRecessive Clear Testresults-Newpotentialdisordersinthebreed Disorder Type ModeofInheritance Result VonWillebrand'sDisease(vWD)TypeII BloodDisorders AutosomalRecessive Clear OnbehalfofGenoscoperLaboratories, Whenobtainingacarrieroratrisktestresult,we recommendthatyoucontactyourveterinarianformore detailedinformationontheconditionandpossible treatment. JonasDonner,PhD,HeadofResearchandDevelopment atGenoscoperLaboratories BR00385 SqueakerBalderico,LagottoRomagnolo RegisteredName: SqueakerBalderico CallName: Balderico Microchip: 380260042455883 Owner: TraceyHarris Country: Canada Testingdate: 2016/3/18 Breed: LagottoRomagnolo Gender: Male Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:No Testresultsforpharmacogenetics Disorder ModeofInheritance Result Multidrugresistance1(MDR1genemutation) AutosomalRecessive Clear OnbehalfofGenoscoperLaboratories, Whenobtainingacarrieroratrisktestresult,we recommendthatyoucontactyourveterinarianformore detailedinformationontheconditionandpossible treatment. JonasDonner,PhD,HeadofResearchandDevelopment atGenoscoperLaboratories BR00385 SqueakerBalderico,LagottoRomagnolo RegisteredName: SqueakerBalderico Owner: TraceyHarris CallName: Balderico Country: Canada Microchip: 380260042455883 Testingdate: 2016/3/18 Breed: LagottoRomagnolo Gender: Male Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:No Testresults-Traits-page1 Trait Genotype Description ColorLocusE-Extensions e/E ThedogislikelytoexpressthecoatcolordefinedbytheKandA loci.Thedogcarriesrecessivered. ColorLocusB-Brown bc/bc Thedogislikelytohavebrowncoat. ColorLocusK-DominantBlack KB/KB||KB/kbr Thedogisgeneticallydominantblackorbrindle. ||kbr/kbr ColorLocusA-Agouti at/at Thedoghasgeneticallytanpointsorsaddletanpattern. ColorLocusS-Piebaldor extremewhitespotting sp/sp Thedogislikelytohavepiebaldspottingortobeextremewhite. ColorLocusH-Harlequin h/h Thedogdoesn'thaveharlequinpattern. OnbehalfofGenoscoperLaboratories, JonasDonner,PhD,HeadofResearchandDevelopment atGenoscoperLaboratories BR00385 SqueakerBalderico,LagottoRomagnolo RegisteredName: SqueakerBalderico CallName: Balderico Owner: TraceyHarris Country: Canada Microchip: 380260042455883 Testingdate: 2016/3/18 Breed: LagottoRomagnolo Gender: Male Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:No Testresults-Traits-page2 Trait Genotype Description Furnishings/ImproperCoatin PortugueseWaterDogs (markertest) AA/TT Thedogisgeneticallylikelytoexpressfurnishings. ColorPattern-SaddleTan dup/dup ThedogmayhavetanpointsifithastanpointgenotypeattheAlocus. Bodymass,insulin-likegrowth A/A factor1(IGF1)genevariant Thedogishomozygousforthegeneticvarianttypicallyassociatedwith smallbodymass.Thisgenotypeiscommone.g.inYorkshireTerrier, ChihuahuaandChineseCrestedDogs. 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/T Thedoghasacurlyappearance.Thegeneticvarianttypicallyassociated withacurlycoatdominatesthevarianttypicallyassociatedwithanoncurlycoat. Coatlength/ T/T Thedogcarriestwocopiesofthegeneticvarianttypicallyassociatedwith along-hairedcoat.Dogswiththisgenotypetypicallyhavelongcoat. Tinysize,insulin-likegrowth A/G factor1receptor(IGF1R)gene variant Yourdogisheterozygousforthisvariant.Thismeansthatyourdogcarries onecopyofageneticvarianttypicallyassociatedwithtinysize(heightat thewithers<25.4cm(10inches)),andonecopytypicallyassociatedwith largersize(>25.4cm(10inches)). OnbehalfofGenoscoperLaboratories, JonasDonner,PhD,HeadofResearchandDevelopment atGenoscoperLaboratories BR00385 SqueakerBalderico,LagottoRomagnolo Testresults-Additionaldisordersfoundinotherbreeds-page1 BloodDisorders Disorder ModeofInheritance Result BleedingdisorderduetoP2RY12defect AutosomalRecessive Clear CanineCyclicNeutropenia,CyclicHematopoiesis,GrayCollieSyndrome, AutosomalRecessive (CN) Clear CanineLeucocyteAdhesionDeficiency(CLAD),typeIII AutosomalRecessive Clear FactorIXDeficiencyorHemophiliaB(3mutations) X-linkedRecessive Clear FactorVIIDeficiency AutosomalRecessive Clear FactorVIIIDeficiencyorHemophiliaA(3mutations) X-linkedRecessive Clear GlanzmannThrombastheniaTypeI,(GT);mutationoriginallyfoundin PyreneanMountainDog AutosomalRecessive Clear HereditaryElliptocytosis Clear HereditaryPhosphofructokinase(PFK)Deficiency AutosomalRecessive Clear Macrothrombocytopenia;disease-linkedSNPoriginallyfoundinNorfolk andCairnTerrier AutosomalRecessive Clear May-HegglinAnomaly(MHA) AutosomalDominant Clear PrekallikreinDeficiency AutosomalRecessive Clear PyruvateKinaseDeficiency(4mutations) AutosomalRecessive Clear TrappedNeutrophilSyndrome,(TNS) AutosomalRecessive Clear BR00385 SqueakerBalderico,LagottoRomagnolo Testresults-Additionaldisordersfoundinotherbreeds-page2 OcularDisorders Disorder ModeofInheritance Result CanineMultifocalRetinopathy1,(CMR1);Mastiff-relatedbreedsmutation AutosomalRecessive Clear CanineMultifocalRetinopathy2,(CMR2);mutationoriginallyfoundin CotondeTulear AutosomalRecessive Clear CanineMultifocalRetinopathy3,(CMR3);mutationoriginallyfoundin LapponianHerder AutosomalRecessive Clear ConeDegeneration,(CD)orAchromatopsia(2mutations) AutosomalRecessive Clear Cone-RodDystrophy1,(crd1);mutationoriginallyfoundinAmerican StaffordshireTerrier AutosomalRecessive Clear Cone-RodDystrophy2,(crd2);mutationoriginallyfoundinPitBullTerrier AutosomalRecessive Clear Cone-RodDystrophy,(cord1-PRA/crd4) AutosomalRecessive (IncompletePenetrance) Clear Cone-RodDystrophy,StandardWirehairedDachshund,(crdSWD) AutosomalRecessive Clear DominantProgressiveRetinalAtrophy,(DPRA) AutosomalDominant Clear EarlyRetinalDegeneration,(erd);mutationoriginallyfoundinNorwegian Elkhound AutosomalRecessive Clear GlaucomaintheNorwegianElkhound AutosomalRecessive Clear GoldenRetrieverProgressiveRetinalAtrophy1,(GR_PRA1) AutosomalRecessive Clear PrimaryHereditaryCataract(PHC);mutationoriginallyfoundinAustralian Shepherd AutosomalDominant (IncompletePenetrance) Clear PrimaryLensLuxation,(PLL) AutosomalRecessive Clear PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundin Beagle AutosomalRecessive Clear ProgressiveRetinalAtrophy,(PAP1_PRA);mutationoriginallyfoundin PapillonandPhalene AutosomalRecessive Clear ProgressiveRetinalAtrophy,(PRA);mutationoriginallyfoundinBasenji 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 Clear BR00385 SqueakerBalderico,LagottoRomagnolo Testresults-Additionaldisordersfoundinotherbreeds-page3 EndocrineDisorders Disorder ModeofInheritance Result CongenitalHypothyroidism;mutationoriginallyfoundinToyFox-andRat Terrier AutosomalRecessive Clear Disorder ModeofInheritance Result AutosomalRecessiveSevereCombinedImmunodeficiency,(ARSCID) AutosomalRecessive Clear Complement3(C3)Deficiency AutosomalRecessive Clear SevereCombinedImmunodeficiencyinFrisianWaterDogs,(SCID) AutosomalRecessive Clear X-linkedSevereCombinedImmunodeficiency(XSCID)(2mutations) X-linkedRecessive Clear ImmunologicDisorders BR00385 SqueakerBalderico,LagottoRomagnolo Testresults-Additionaldisordersfoundinotherbreeds-page4 RenalDisorders Disorder ModeofInheritance Result CystinuriaTypeI-A;mutationoriginallyfoundinNewfoundlandDog AutosomalRecessive Clear CystinuriaTypeII-AandCystinuriaTypeII-B(2mutations) AutosomalDominant Clear PolycysticKidneyDiseaseinBullTerriers,(BTPKD) AutosomalDominant Clear PrimaryHyperoxaluria,(PH);mutationoriginallyfoundinCotondeTulear AutosomalRecessive Clear RenalCystadenocarcinomaandNodularDermatofibrosis,(RCND) AutosomalDominant Clear X-LinkedHereditaryNephropathy,(XLHN) X-linkedRecessive Clear BR00385 SqueakerBalderico,LagottoRomagnolo Testresults-Additionaldisordersfoundinotherbreeds-page5 MetabolicDisorders Disorder ModeofInheritance Result GlycogenStorageDiseaseTypeIIorPompe'sDisease,(GSDII) AutosomalRecessive Clear GlycogenStorageDiseaseTypeIIIa,(GSDIIIa) AutosomalRecessive Clear GlycogenStorageDiseaseTypeIa,(GSDIa) AutosomalRecessive Clear HypocatalasiaorAcatalasemia AutosomalRecessive Clear IntestinalCobalaminMalabsorptionorImerslund-GräsbeckSyndrome, (IGS)(2mutations) AutosomalRecessive Clear MucopolysaccharidosisType3A,(MPSIIIA)(2mutations) AutosomalRecessive Clear MucopolysaccharidosisTypeVII,(MPSVII)(2mutations) AutosomalRecessive Clear PyruvateDehydrogenasePhosphatase1(PDP1)Deficiency AutosomalRecessive Clear Disorder ModeofInheritance Result CavalierKingCharlesSpanielMuscularDystrophy(CKCS-MD) X-linkedRecessive Clear CentronuclearMyopathy,(CNM)(2mutations) AutosomalRecessive Clear DuchenneorDystrophinMuscularDystrophy,(DMD) X-linkedRecessive Clear MuscularHypertrophy(DoubleMuscling) AutosomalRecessive Clear MyotoniaCongenita;mutationoriginallyfoundinAustralianCattleDog AutosomalRecessive Clear X-LinkedMyotubularMyopathy X-linkedRecessive Clear MuscularDisorders BR00385 SqueakerBalderico,LagottoRomagnolo Testresults-Additionaldisordersfoundinotherbreeds-page6 NeurologicDisorders Disorder ModeofInheritance Result Adult-OnsetNeuronalCeroidLipofuscinosis,(Adult-onsetNCL),mutation originallyfoundinTibetanterrier AutosomalRecessive Clear AlaskanHuskyEncephalopathy,(AHE) AutosomalRecessive Clear Bandera'sNeonatalAtaxia,(BNAt) AutosomalRecessive Clear Early-OnsetProgressivePolyneuropathy(2mutations) AutosomalRecessive Clear FetalOnsetNeuroaxonalDystrophy,(FNAD) AutosomalRecessive Clear HereditaryAtaxiaorCerebellarAtaxia;mutationoriginallyfoundinOld EnglishSheepdogandGordonSetter AutosomalRecessive Clear HyperekplexiaorStartleDisease AutosomalRecessive Clear HypomyelinationinWeimaraners AutosomalRecessive Clear L-2-Hydroxyglutaricaciduria,(L2HGA);mutation1originallyfoundin StaffordshireBullTerrier AutosomalRecessive Clear NeonatalCerebellarCorticalDegenerationorCerebellarAbiotrophy, (NCCD) AutosomalRecessive Clear NeonatalEncephalopathywithSeizures,(NEWS) AutosomalRecessive Clear NeuronalCeroidLipofuscinosis8,(NCL8);rarevariant AutosomalRecessive Clear NeuronalCeroidLipofuscinosisType1,(NCL1) AutosomalRecessive Clear NeuronalCeroidLipofuscinosisType10,(NCL10) AutosomalRecessive Clear Progressiveearly-onsetcerebellarataxia;mutationoriginallyfoundin FinnishHound AutosomalRecessive Nocall SpinalDysraphism AutosomalRecessive Clear SpinocerebellarAtaxiawithMyokymiaand/orSeizures(SCA) AutosomalRecessive Clear SpinocerebellarAtaxia/Late-OnsetAtaxia(SCA,LOA) AutosomalRecessive Clear X-LinkedTremors;mutationoriginallyfoundinEnglishSpringerSpaniel X-linkedRecessive Clear BR00385 SqueakerBalderico,LagottoRomagnolo Testresults-Additionaldisordersfoundinotherbreeds-page7 NeuromuscularDisorders Disorder ModeofInheritance Result CongenitalMyasthenicSyndrome,(CMS) AutosomalRecessive Clear EpisodicFalling,(EF) AutosomalRecessive Clear Exercise-InducedCollapse,(EIC) AutosomalRecessive (IncompletePenetrance) Clear GM2GangliosidosisorSandhoffDisease(2mutations) AutosomalRecessive Clear GloboidCellLeukodystrophyorKrabbe'sDisease,(GLD)(2mutations) AutosomalRecessive Clear Disorder ModeofInheritance Result Chondrodysplasia;mutationoriginallyfoundinNorwegianElkhoundand KarelianBearDog AutosomalRecessive Clear CraniomandibularOsteopathy,(CMO) AutosomalDominant (IncompletePenetrance) Clear HereditaryVitaminD-ResistantRickets,(HVDRR) AutosomalRecessive Clear OculoskeletalDysplasia2orDwarfism-RetinalDysplasia2 AutosomalRecessive Clear OsteochondrodysplasiainMiniaturePoodles AutosomalRecessive Clear SkeletalDisorders OsteogenesisImperfecta,(OI)foundintheBeagle Clear OsteogenesisImperfecta,(OI)orBrittleBoneDisease;mutationoriginally foundinDachshund AutosomalRecessive Clear SkeletalDysplasia2,(SD2) AutosomalRecessive Clear BR00385 SqueakerBalderico,LagottoRomagnolo Testresults-Additionaldisordersfoundinotherbreeds-page8 DermalDisorders Disorder ModeofInheritance Result DystrophicEpidermolysisBullosa AutosomalRecessive Clear EpidermolyticHyperkeratosis AutosomalRecessive Clear HereditaryFootpadHyperkeratosis,(HFH) AutosomalRecessive Clear LamellarIchthyosis,(LI) AutosomalRecessive Clear Musladin-Luekesyndrome,(MLS) AutosomalRecessive Clear X-LinkedEctodermalDysplasia,(XHED) X-linkedRecessive Clear Disorder ModeofInheritance Result AmelogenesisImperfecta,(AI) AutosomalRecessive Clear Cleftpalate;DLX6genemutationoriginallyfoundinNovaScotiaDuck TollingRetriever AutosomalRecessive Clear CongenitalKeratoconjunctivitisSiccaandIchthyosiformDermatosis, (CKCSID) AutosomalRecessive Clear Narcolepsy(3mutations) AutosomalRecessive Clear PersistentMüllerianDuctSyndrome,(PMDS);mutationoriginallyfoundin AutosomalRecessive MiniatureSchnauzer Clear PrimaryCiliaryDyskinesia,(PCD) Clear OtherDisorders AutosomalRecessive BR00385 SqueakerBalderico,LagottoRomagnolo 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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