870023218440542
Apple,LagottoRomagnolo
RegisteredName: Apple
Owner: MelissaDrisdelle
CallName: Apple
Country: Canada
RegistrationID: ROI14/113153
Testingdate: 2015/8/6
Microchip: 380260041267817
Breed: LagottoRomagnolo
Gender: Female
Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:No
Testresults-Knowndisordersinthebreed
Disorder
Type
ModeofInheritance
Result
Hyperuricosuria,(HUU)
RenalDisorders
AutosomalRecessive
Clear
BenignFamilialJuvenileEpilepsyorRemittingFocal
Epilepsy
Neurologic
Disorders
AutosomalRecessive
Clear
LagottoStorageDisease,(LSD)
Neurologic
Disorders
AutosomalRecessive
Clear
Testresults-Newpotentialdisordersinthebreed
Disorder
Type
ModeofInheritance
Result
VonWillebrand'sDisease(vWD)TypeII
BloodDisorders
AutosomalRecessive
Clear
Disorder
ModeofInheritance
Result
MalignantHyperthermia(MH)
AutosomalDominant
Clear
Testresultsforpharmacogenetics
OnbehalfofGenoscoperLaboratories,
Whenobtainingacarrieroratrisktestresult,we
recommendthatyoucontactyourveterinarianformore
detailedinformationontheconditionandpossible
treatment.
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
870023218440542
Apple,LagottoRomagnolo
RegisteredName: Apple
Owner: MelissaDrisdelle
CallName: Apple
Country: Canada
RegistrationID: ROI14/113153
Testingdate: 2015/8/6
Microchip: 380260041267817
Breed: LagottoRomagnolo
Gender: Female
Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:No
Testresults-Traits-page1
Trait
Genotype
Description
ColorLocusE(Extensions)
e/e
Thedoghasrecessiveredcoatcolor.
ColorLocusB(Brown)
bc/bc
Thedogislikelytohavebrowncoat.
ColorLocusK(DominantBlack)
KB/KB||KB/kbr||
kbr/kbr
Thedogisgeneticallydominantblackorbrindle.
ColorLocusA(Agouti)
at/at
Thedogisgeneticallyblackandtanorsaddletan.
ColorLocusS(Piebaldorextremewhite
spotting)
sp/sp
Thedogislikelytohavepiebaldspottingortobe
extremewhite.
ColorLocusH(Harlequin)
h/h
Thedogdoesn'thaveharlequinpattern.
OnbehalfofGenoscoperLaboratories,
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
870023218440542
Apple,LagottoRomagnolo
RegisteredName: Apple
Owner: MelissaDrisdelle
CallName: Apple
Country: Canada
RegistrationID: ROI14/113153
Testingdate: 2015/8/6
Microchip: 380260041267817
Breed: LagottoRomagnolo
Gender: Female
Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorizedpersonduringsampletaking:No
Testresults-Traits-page2
Trait
Genotype Description
Furnishings/ImproperCoatin
PortugueseWaterDogs
(markertest)
AA/TT
Thedogisgeneticallylikelytoexpressfurnishings.
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
Nocall
Coatlength/"Fluffy"inWelsh
Corgi
T/T
Tinysize,insulin-likegrowth
A/G
factor1receptor(IGF1R)gene
variant
Thedogcarriestwocopiesofthegeneticvarianttypicallyassociatedwith
along-hairedcoat.Dogswiththisgenotypetypicallyhavelongcoat.
Yourdogisheterozygousforthisvariant.Thismeansthatyourdogcarries
onecopyofageneticvarianttypicallyassociatedwithtinysize(heightat
thewithers<25.4cm(10inches)),andonecopytypicallyassociatedwith
largersize(>25.4cm(10inches)).
OnbehalfofGenoscoperLaboratories,
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
870023218440542
Apple,LagottoRomagnolo
Testresults-Additionaldisordersfoundinotherbreeds-page1
BloodDisorders
Disorder
ModeofInheritance
Result
BleedingdisorderduetoP2RY12defect
AutosomalRecessive
Clear
CanineCyclicNeutropenia,CyclicHematopoiesis,GrayCollieSyndrome, AutosomalRecessive
(CN)
Clear
CanineLeucocyteAdhesionDeficiency(CLAD),typeIII
AutosomalRecessive
Clear
FactorIXDeficiencyorHemophiliaB(5mutations)
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(5mutations)
AutosomalRecessive
Clear
Thrombopathia(3mutations)
AutosomalRecessive
Clear
TrappedNeutrophilSyndrome,(TNS)
AutosomalRecessive
Clear
870023218440542
Apple,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
GeneralizedProgressiveRetinalAtrophy
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
870023218440542
Apple,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
870023218440542
Apple,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
870023218440542
Apple,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(2mutations)
AutosomalRecessive
Clear
X-LinkedMyotubularMyopathy
X-linkedRecessive
Clear
MuscularDisorders
870023218440542
Apple,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)(2mutations)
AutosomalRecessive
Clear
NeonatalCerebellarCorticalDegenerationorCerebellarAbiotrophy,
(NCCD)
AutosomalRecessive
Clear
NeonatalEncephalopathywithSeizures,(NEWS)
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis8,(NCL8)andNCL8rarevariant(2
mutations)
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
870023218440542
Apple,LagottoRomagnolo
Testresults-Additionaldisordersfoundinotherbreeds-page7
NeuromuscularDisorders
Disorder
ModeofInheritance
Result
CongenitalMyasthenicSyndrome,(CMS)
AutosomalRecessive
Clear
EpisodicFalling,(EF)
AutosomalRecessive
Clear
GM1Gangliosidosis(3mutations)
AutosomalRecessive
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
870023218440542
Apple,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;mutationoriginallyfoundinNovaScotiaDuckTolling
Retriever,reverseassay
AutosomalRecessive
Clear
CongenitalKeratoconjunctivitisSiccaandIchthyosiformDermatosis,
(CKCSID)
AutosomalRecessive
Clear
Narcolepsy(3mutations)
AutosomalRecessive
Clear
PersistentMüllerianDuctSyndrome,(PMDS);mutationoriginallyfoundin AutosomalRecessive
MiniatureSchnauzer
Clear
PrimaryCiliaryDyskinesia,(PCD)
Clear
OtherDisorders
AutosomalRecessive
870023218440542
Apple,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.
Forfurtherinformation,pleasevisit:www.mydogdna.com/legal-notices