870023220483175
Sini-MininValentine,GermanPinscher
RegisteredName: Sini-MininValentine
Owner: SonjaSärkkä
Nickname: Tuisku
Country: Finland
RegistrationID: FI40261/13
Testingdate: 2015/11/12
Microchip: 968000005545654
Breed: GermanPinscher
Gender: Female
Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorisedpersonduringsampletaking:No
Testresults-Knowndisordersinthebreed
Disorder
Type
ModeofInheritance
Result
VonWillebrand'sDisease(vWD)Type1
BloodDisorders
AutosomalRecessive
Clear
OnbehalfofGenoscoperLaboratories,
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
870023220483175
Sini-MininValentine,GermanPinscher
RegisteredName: Sini-MininValentine
Owner: SonjaSärkkä
Nickname: Tuisku
Country: Finland
RegistrationID: FI40261/13
Testingdate: 2015/11/12
Microchip: 968000005545654
Breed: GermanPinscher
Gender: Female
Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorisedpersonduringsampletaking:No
Testresults-Traits-page1
CoatType
Trait
Genotype Description
CoatLength
L/L
Thedogislikelytohaveshort-hairedcoat.
Furnishings/ImproperCoatinPortugueseWaterDogs
(markertest)
GG/CC
Thedogisnotgeneticallylikelytoexpress
furnishings.
Curlycoat
C/C
Thedogisgeneticallynon-curly.
OnbehalfofGenoscoperLaboratories,
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
870023220483175
Sini-MininValentine,GermanPinscher
RegisteredName: Sini-MininValentine
Owner: SonjaSärkkä
Nickname: Tuisku
Country: Finland
RegistrationID: FI40261/13
Testingdate: 2015/11/12
Microchip: 968000005545654
Breed: GermanPinscher
Gender: Female
Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorisedpersonduringsampletaking:No
Testresults-Traits-page2
CoatColour
Trait
Genotype
Description
ColourLocusE-Extensions
E/E
ThedogislikelytoexpressthecoatcolourdefinedbytheK
andAloci.
ColourLocusB-Brown
B/B||B/bd||
bd/bd
Thedogdoesn'thaveanyofthetestedballelescausingbrown
colour.
ColourLocusK-DominantBlack
ky/ky
Thedogislikelytoexpressthecoatcolourdefinedbythe
colourlocusA.
ColourLocusA-Agouti
at/at
Thedoghasgeneticallytanpointsorsaddletanpattern.
ColourLocusS-Piebaldorextreme
whitespotting
S/S
Thedogislikelytohavesolidcoatcolourwithminimalwhite.
ColourLocusH-Harlequin
h/h
Thedogdoesn'thaveharlequinpattern.
ColourPattern(RALYgene)-Saddle
Tan
-/-
Thedogmayhavesaddletanpatternifithasalsotanpoint
genotypeattheAlocus.
OnbehalfofGenoscoperLaboratories,
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
870023220483175
Sini-MininValentine,GermanPinscher
RegisteredName: Sini-MininValentine
Owner: SonjaSärkkä
Nickname: Tuisku
Country: Finland
RegistrationID: FI40261/13
Testingdate: 2015/11/12
Microchip: 968000005545654
Breed: GermanPinscher
Gender: Female
Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorisedpersonduringsampletaking:No
Testresults-Traits-page3
Morphology
Trait
Genotype Description
Earerectness(prickedearsversus
T/T
floppyears),variantchr10:11072007
Thedogishomozygousandcarriestwocopiesofageneticvariant
typicallyassociatedwithprickedears.Thisgenotypeiscommonin
breedslikeFinnishSpitz,GermanShepherd,Samoyed,Terriersand
inCollie-relatedbreeds.
Bobtail
C/C
Thedogdoesnotcarryanycopyofthebobtailmutation.Ittherefore
likelyhasalong-tailedphenotype.
Snout/skulllength(shortenedhead
versuselongatedhead),bone
morphogeneticprotein3(BMP3)
genevariant
C/C
Yourdogishomozygousforthegeneticvarianttypicallyfoundin
breedswithanelongatedhead(e.g.Saluki,Collie,IrishWolfhound).
OnbehalfofGenoscoperLaboratories,
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
870023220483175
Sini-MininValentine,GermanPinscher
RegisteredName: Sini-MininValentine
Owner: SonjaSärkkä
Nickname: Tuisku
Country: Finland
RegistrationID: FI40261/13
Testingdate: 2015/11/12
Microchip: 968000005545654
Breed: GermanPinscher
Gender: Female
Dog'sidentityverifiedfrommic roc hiportattoobyveterinarianorotherauthorisedpersonduringsampletaking:No
Testresults-Traits-page4
BodySize
Trait
Genotype Description
Tinysize,insulin-likegrowthfactor1receptor
(IGF1R)genevariant
A/G
Thedogcarriesonecopyofthederivedalleleandone
copyoftheancestralallele.
Bodymass,insulin-likegrowthfactor1(IGF1)
genevariant
A/A
Thedogishomozygousforthederivedalleletypically
associatedwithsmallbodymass.
Bodysize,STC2genevariantchr4:39182836
A/A
Thedoghastwoderivedalleles,whichhavemildeffecton
reducingthesize.
Bodysize,GHR1genevariantE191K
A/G
Thedogcarriesoneancestralalleleandonederived
allele.
Bodysize,GHR2genevariantP177L
C/C
Thedoghastwocopiesoftheancestralalleleassociated
withlargerbodysize.
Bodysize,HMGA2genevariant
G/G
Thedoghastwocopiesoftheancestralalleleassociated
withlargerbodysize.
OnbehalfofGenoscoperLaboratories,
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
870023220483175
Sini-MininValentine,GermanPinscher
Testresults-Additionaldisordersfoundinotherbreeds-page1
BloodDisorders
Disorder
ModeofInheritance
Result
BleedingdisorderduetoP2RY12defect
AutosomalRecessive
Clear
CanineCyclicNeutropenia,CyclicHematopoiesis,GreyCollieSyndrome, AutosomalRecessive
(CN)
Clear
CanineLeukocyteAdhesionDeficiency(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-linkedvariantoriginallyfoundinNorfolk
andCairnTerrier
AutosomalRecessive
Clear
May-HegglinAnomaly(MHA)
AutosomalDominant
Clear
PrekallikreinDeficiency
AutosomalRecessive
Clear
PyruvateKinaseDeficiency(4mutations)
AutosomalRecessive
Clear
Thrombopathia(3mutations)
AutosomalRecessive
Clear
TrappedNeutrophilSyndrome,(TNS)
AutosomalRecessive
Clear
VonWillebrand'sDisease(vWD)Type3(3mutations)
AutosomalRecessive
Clear
870023220483175
Sini-MininValentine,GermanPinscher
Testresults-Additionaldisordersfoundinotherbreeds-page2
OcularDisorders-page1
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);mutationoriginallyfoundinAmericanPit
BullTerrier
AutosomalRecessive
Clear
Cone-RodDystrophy,(cord1-PRA/crd4)
AutosomalRecessive
(IncompletePenetrance)
Clear
Cone-RodDystrophy,StandardWirehairedDachshund,(crdSWD)
AutosomalRecessive
Clear
CongenitalStationaryNightBlindness(CSNB)
AutosomalRecessive
Clear
DominantProgressiveRetinalAtrophy,(DPRA)
AutosomalDominant
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
PrimaryOpenAngleGlaucoma,(POAG);mutationoriginallyfoundin
NorwegianElkhound
AutosomalRecessive
Clear
ProgressiveRetinalAtrophyTypeIII,(PRAtypeIII);mutationoriginally
foundinTibetanSpanielandTibetanTerrier
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
870023220483175
Sini-MininValentine,GermanPinscher
Testresults-Additionaldisordersfoundinotherbreeds-page3
OcularDisorders-page2
Disorder
ModeofInheritance
Result
X-LinkedProgressiveRetinalAtrophy1,(XLPRA1)
X-linkedRecessive
Clear
X-LinkedProgressiveRetinalAtrophy2,(XLPRA2)
X-linkedRecessive
Clear
Disorder
ModeofInheritance
Result
CongenitalHypothyroidism(2mutations)
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
EndocrineDisorders
ImmunologicalDisorders
870023220483175
Sini-MininValentine,GermanPinscher
Testresults-Additionaldisordersfoundinotherbreeds-page4
RenalDisorders
Disorder
ModeofInheritance
Result
CystinuriaTypeI-A;mutationoriginallyfoundinNewfoundlandDog
AutosomalRecessive
Clear
CystinuriaTypeII-A;mutationoriginallyfoundinAustralianCattleDog
AutosomalDominant
Clear
Cystinuria,TypeII-B;mutationoriginallyfoundinMiniaturePinscher
AutosomalDominant
Clear
FamilialNephropathy(FN)(2mutations)
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)(2mutations)
X-linkedRecessive
Clear
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
MucopolysaccharidosisTypeIIIA,(MPSIIIA)(2mutations)
AutosomalRecessive
Clear
MucopolysaccharidosisTypeVII,(MPSVII)(2mutations)
AutosomalRecessive
Clear
PyruvateDehydrogenasePhosphatase1(PDP1)Deficiency
AutosomalRecessive
Clear
MetabolicDisorders
870023220483175
Sini-MininValentine,GermanPinscher
Testresults-Additionaldisordersfoundinotherbreeds-page5
MuscularDisorders
Disorder
ModeofInheritance
Result
CavalierKingCharlesSpanielMuscularDystrophy,(CKCS-MD)
X-linkedRecessive
Clear
CentronuclearMyopathy,(CNM)(2mutations)
AutosomalRecessive
Clear
DuchenneorDystrophinMuscularDystrophy,(DMD);mutationoriginally
foundinGoldenRetriever
X-linkedRecessive
Clear
MuscularHypertrophy(DoubleMuscling)
AutosomalRecessive
Clear
MyotoniaCongenita(2mutations)
AutosomalRecessive
Clear
X-LinkedMyotubularMyopathy
X-linkedRecessive
Clear
870023220483175
Sini-MininValentine,GermanPinscher
Testresults-Additionaldisordersfoundinotherbreeds-page6
NeurologicalDisorders-page1
Disorder
ModeofInheritance
Result
AlaskanHuskyEncephalopathy,(AHE)
AutosomalRecessive
Clear
Bandera'sNeonatalAtaxia,(BNAt)
AutosomalRecessive
Clear
BenignFamilialJuvenileEpilepsyorRemittingFocalEpilepsy
AutosomalRecessive
Clear
Early-OnsetProgressivePolyneuropathy;mutationoriginallyfoundin
AlaskanMalamute
AutosomalRecessive
Clear
Early-OnsetProgressivePolyneuropathy;mutationoriginallyfoundin
Greyhound
AutosomalRecessive
Clear
FetalOnsetNeuroaxonalDystrophy,(FNAD)
AutosomalRecessive
Clear
HereditaryAtaxiaorCerebellarAtaxia;mutationoriginallyfoundinOld
EnglishSheepdogandGordonSetter
AutosomalRecessive
Clear
HyperekplexiaorStartleDisease
AutosomalRecessive
Clear
Hypomyelination;mutationoriginallyfoundinWeimaraner
AutosomalRecessive
Clear
L-2-Hydroxyglutaricaciduria,(L2HGA);mutationoriginallyfoundin
StaffordshireBullTerrier
AutosomalRecessive
Clear
LagottoStorageDisease,(LSD)
AutosomalRecessive
Clear
NeonatalCerebellarCorticalDegenerationorCerebellarAbiotrophy,
(NCCD)
AutosomalRecessive
Clear
NeonatalEncephalopathywithSeizures,(NEWS)
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis1,(NCL1);mutationoriginallyfoundin
Dachshund
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis10,(NCL10);mutationoriginallyfoundin
AmericanBulldog
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis12,(NCL12);mutationoriginallyfoundin
TibetanTerrier
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis4A,(NCL4);mutationoriginallyfoundin
AmericanStaffordshireTerrier
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis5,(NCL5);mutationoriginallyfoundin
BorderCollie
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis8,(NCL8)(2mutations)
AutosomalRecessive
Clear
ProgressiveEarly-OnsetCerebellarAtaxia;mutationoriginallyfoundin
FinnishHound
AutosomalRecessive
Nocall
SpinalDysraphism
AutosomalRecessive
Clear
870023220483175
Sini-MininValentine,GermanPinscher
Testresults-Additionaldisordersfoundinotherbreeds-page7
NeurologicalDisorders-page2
Disorder
ModeofInheritance
Result
SpinocerebellarAtaxiawithMyokymiaand/orSeizures(SCA)
AutosomalRecessive
Clear
SpinocerebellarAtaxia/Late-OnsetAtaxia(SCA,LOA)
AutosomalRecessive
Clear
X-LinkedTremors;mutationoriginallyfoundinEnglishSpringerSpaniel
X-linkedRecessive
Clear
ModeofInheritance
Result
NeuromuscularDisorders
Disorder
CongenitalMyasthenicSyndrome,(CMS);mutationoriginallyfoundinOld AutosomalRecessive
DanishPointingDog
Clear
GM1Gangliosidosis(3mutations)
AutosomalRecessive
Clear
GM2Gangliosidosis,mutationoriginallyfoundinJapaneseChin
AutosomalRecessive
Clear
GM2Gangliosidosis;mutationoriginallyfoundinToyPoodle
AutosomalRecessive
Clear
GloboidCellLeukodystrophyorKrabbeDisease,(GLD);mutation
originallyfoundinTerriers
AutosomalRecessive
Clear
GloboidCellLeukodystrophyorKrabbeDisease,(GLD);mutation
originallyfoundinIrishSetter
AutosomalRecessive
Clear
870023220483175
Sini-MininValentine,GermanPinscher
Testresults-Additionaldisordersfoundinotherbreeds-page8
SkeletalDisorders
Disorder
ModeofInheritance
Result
Chondrodysplasia;mutationoriginallyfoundinNorwegianElkhoundand
KarelianBearDog
AutosomalRecessive
Clear
CleftPalate;DLX6genemutationoriginallyfoundinNovaScotiaDuck
TollingRetriever
AutosomalRecessive
Clear
CraniomandibularOsteopathy,(CMO);mutationassociatedwithterrier
breeds
AutosomalDominant
(IncompletePenetrance)
Clear
HereditaryVitaminD-ResistantRickets,(HVDRR)
AutosomalRecessive
Clear
OculoskeletalDysplasia2orDwarfism-RetinalDysplasia2,(OSD2)
AutosomalRecessive
Clear
Osteochondrodysplasia;mutationoriginallyfoundinMiniaturePoodle
AutosomalRecessive
Clear
OsteogenesisImperfecta,(OI);mutationoriginallyfoundinBeagle
Clear
OsteogenesisImperfecta,(OI);mutationoriginallyfoundinDachshund
AutosomalRecessive
Clear
SkeletalDysplasia2,(SD2)
AutosomalRecessive
Clear
Disorder
ModeofInheritance
Result
DystrophicEpidermolysisBullosa;mutationoriginallyfoundinGolden
Retriever
AutosomalRecessive
Clear
EpidermolyticHyperkeratosis
AutosomalRecessive
Clear
HereditaryFootpadHyperkeratosis,(HFH)
AutosomalRecessive
Clear
GoldenRetrieverIchthyosis
AutosomalRecessive
Clear
LamellarIchthyosis,(LI)
AutosomalRecessive
Clear
Musladin-Luekesyndrome,(MLS)
AutosomalRecessive
Clear
X-LinkedEctodermalDysplasia,(XHED)
X-linkedRecessive
Clear
DermalDisorders
870023220483175
Sini-MininValentine,GermanPinscher
Testresults-Additionaldisordersfoundinotherbreeds-page9
Pharmacogenetics
Disorder
ModeofInheritance
Result
MalignantHyperthermia(MH)
AutosomalDominant
Clear
Multi-DrugResistance1,(MDR1)
AutosomalDominant
Clear
Disorder
ModeofInheritance
Result
AmelogenesisImperfecta,(AI)
AutosomalRecessive
Clear
CongenitalKeratoconjunctivitisSiccaandIchthyosiformDermatosis,
(CKCSID)
AutosomalRecessive
Clear
Narcolepsy(3mutations)
AutosomalRecessive
Clear
PersistentMüllerianDuctSyndrome,(PMDS);mutationoriginallyfoundin AutosomalRecessive
MiniatureSchnauzer
Clear
PrimaryCiliaryDyskinesia,(PCD)
Clear
OtherDisorders
AutosomalRecessive
870023220483175
Sini-MininValentine,GermanPinscher
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