Test results - Terra de Vera Cruz

1/5/2014
MyDogDNAPASS
870023219061842
ChicotedoBRTerradeVeraCruz,TerrierBrazileiro
Registeredname:ChicotedoBRTerradeVera
Cruz
Nickname:Chicote
RegistrationID:RG/PRG/10/05815
Microchip:900118000192831
Breed:TerrierBrazileiro
Gender:Male
Owner:MauroSérgioCarvalho
Prizibela
Country:Brazil
Testingdate:30/4/2014
DNAidentificationprofile:
IdentifiedwithstandardISAG
markers
Testresults-Knowndisordersinthebreed
Disorder
Type
M odeofinheritance
Result
MucopolysaccharidosisTypeVII(MPSVII);mutation
originallyfoundinBrazilianTerrier
Metabolic
disorders
AutosomalRecessive
Clear
MalignantHyperthermia(MH)
Pharmacogenetics AutosomalDominant
Clear
Testresults-Newpotentialdisordersinthebreed
Disorder
Type
M odeofinheritance
Result
CanineMultifocalRetinopathy1(cmr1),Mastiff-relatedbreeds
mutation
Eye
disorders
AutosomalRecessive
Carrier
Whenobtainingacarrieroraffectedtestresult,werecommendthatyoucontactyourveterinarianformore
detailedinformationontheconditionandpossibletreatment.
OnbehalfofGenoscoperLaboratories,
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
POBox.1040FI-00251Helsinki|[email protected]
1/5/2014
MyDogDNAPASS
870023219061842
ChicotedoBRTerradeVeraCruz,TerrierBrazileiro
Registeredname:ChicotedoBRTerradeVera
Cruz
Nickname:Chicote
RegistrationID:RG/PRG/10/05815
Microchip:900118000192831
Breed:TerrierBrazileiro
Gender:Male
Owner:MauroSérgioCarvalho
Prizibela
Country:Brazil
Testingdate:30/4/2014
DNAidentificationprofile:
IdentifiedwithstandardISAG
markers
Testresults-Traits
Trait
Genotype Description
ColourLocusA
at/at
Thedogishomozygousforat-allele.
ColourLocusB
B/bc||
bc/bd
Thedogisheterozygousforbcallele.
ColourLocusE
E/E
ThedogishomozygousforEallele.
ColourLocusH
h/h
Thedogishomozygousforhallele.
ColourLocusK
ky/ky
Thedogishomozygousforkyallele.
Furnishings/ImproperCoatin
PortugueseWaterDogs(marker
test)
GG/CC
Thedogisnotgeneticallylikelytoexpressfurnishings.
Bodymass,insulin-likegrowthfactor A/A
1(IGF1)genevariant
Thedogishomozygousforthegeneticvarianttypicallyassociated
withsmallbodymass.Thisgenotypeiscommone.g.inYorkshire
Terrier,ChihuahuaandChineseCrestedDogs.
Coatlength
G/G
Thedogcarriestwocopiesofthegeneticvarianttypicallyassociated
withashort-hairedcoat.
Curlycoat
T/C
Thedoghasacurlyappearance.Thegeneticvarianttypically
associatedwithacurlycoatdominatesthevarianttypically
associatedwithanon-curlycoat.
Earerectness(prickedearsversus
floppyears),variantchr10:11072007
T/T
Thedogishomozygousandcarriestwocopiesofageneticvariant
typicallyassociatedwithprickedears.Thisgenotypeiscommonin
breedslikeFinnishSpitz,GermanShepherd,Samoyed,Terriersand
inCollie-relatedbreeds.
NaturalBobtail(T-boxmutation)
C/C
Thedogdoesnotcarryanycopyofthebobtailmutation.Ittherefore
likelyhasalong-tailedphenotype.
Snout/skulllength(shortenedhead
versuselongatedhead),bone
morphogeneticprotein3(BMP3)
genevariant
C/C
Yourdogishomozygousforthegeneticvarianttypicallyfoundin
breedswithanelongatedhead(e.g.Saluki,Collie,IrishWolfhound).
Tinysize,insulin-likegrowthfactor1
receptor(IGF1R)genevariant
G/G
Yourdogishomozygousforageneticvarianttypicallyfoundinlargersizedbreeds(heightatthewithers>25.4cm(10inches)).
OnbehalfofGenoscoperLaboratories,
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
POBox.1040FI-00251Helsinki|[email protected]
1/5/2014
MyDogDNAPASS
870023219061842
ChicotedoBRTerradeVeraCruz,TerrierBrazileiro
Testresults-Additionaldisordersfoundinotherbreeds-page1/6
Blooddisorders
Disorder
M odeofinheritance
Result
BleedingdisorderduetoP2RY12defect
AutosomalRecessive
Clear
CanineCyclicNeutropenia(GrayCollieSyndrome)
AutosomalRecessive
Clear
FactorIXDeficiencyorHaemophiliaB,Gly379Glumutation
X-linkedRecessive
Clear
FactorIXDeficiencyorHaemophiliaB;mutationoriginallyfoundinLhasa
Apso
X-linkedRecessive
Clear
FactorVIIDeficiency
AutosomalRecessive
Clear
FactorVIIIdeficiencyorHaemophiliaA;mutationoriginallyfoundinGerman
Shepherd
X-linkedRecessive
Clear
GlanzmannThrombasthenia(GT),TypeI;mutationoriginallyfoundin
PyreneanMountainDog
AutosomalRecessive
Clear
GlycogenStorageDiseaseVIIorHereditaryPhosphofructokinase(PFK)
Deficiency
AutosomalRecessive
Clear
May-HegglinAnomaly(MHA)
AutosomalDominant
Clear
PyruvateKinaseDeficiencyofErythrocyte;mutationoriginallyfoundin
Beagle
AutosomalRecessive
Clear
PyruvateKinaseDeficiencyofErythrocyte;mutationoriginallyfoundin
LabradorRetriever
AutosomalRecessive
Clear
PyruvateKinaseDeficiencyofErythrocyte;mutationoriginallyfoundinPug
AutosomalRecessive
Clear
PyruvateKinaseDeficiencyofErythrocyte;mutationoriginallyfoundinWest
HighlandWhiteTerrier
AutosomalRecessive
Clear
TrappedNeutrophilSyndrome(TNS)
AutosomalRecessive
Clear
Disorder
M odeofinheritance
Result
DilatedCardiomyopathy;mutationoriginallyfoundinDobermanPinscher
(USA)
AutosomalDominant
Clear
Cardiologicaldisorders
POBox.1040FI-00251Helsinki|[email protected]
1/5/2014
MyDogDNAPASS
870023219061842
ChicotedoBRTerradeVeraCruz,TerrierBrazileiro
Testresults-Additionaldisordersfoundinotherbreeds-page2/6
Endocrinedisorders
Disorder
M odeofinheritance
Result
Hypothyroidism;mutationoriginallyfoundinTenterfieldTerrier
AutosomalRecessive
Clear
Hypothyroidism;mutationoriginallyfoundinToyFox-andRatTerrier
AutosomalRecessive
Clear
Disorder
M odeofinheritance
Result
AchromatopsiaorConeDegeneration(CD);mutationoriginallyfoundin
GermanShorthairedPointer
AutosomalRecessive
Clear
AutosomalDominantProgressiveRetinalAtrophy(ADPRA)
AutosomalDominant
Clear
CanineMultifocalRetinopathy2(cmr2);mutationoriginallyfoundinCotonde
Tulear
AutosomalRecessive
Clear
CanineMultifocalRetinopathy3(cmr3);mutationoriginallyfoundin
LapponianHerder
AutosomalRecessive
Clear
Cone-rodDystrophy1(cord1-PRA)
AutosomalRecessive
Clear
Cone-roddystrophy(crdSWD);mutationoriginallyfoundinStandardWirehairedDachshund
AutosomalRecessive
Clear
GeneralizedProgressiveRetinalAtrophy;mutationoriginallyfoundin
Schapendoes
AutosomalRecessive
Clear
GoldenRetrieverProgressiveRetinalAtrophy1(GR_PRA1)
AutosomalRecessive
Clear
PrimaryHereditaryCataract(PHC);mutationoriginallyfoundinAustralian
Shepherd
AutosomalDominant
(IncompletePenetrance)
Clear
PrimaryLensLuxation(PLL)
AutosomalRecessive
Clear
PrimaryOpenAngleGlaucoma;mutationoriginallyfoundinBeagle
AutosomalRecessive
Clear
Rod-ConeDysplasia1(rcd1);mutationoriginallyfoundinIrishSetter
AutosomalRecessive
Clear
Rod-ConeDysplasia1a(rcd1a);mutationoriginallyfoundinSloughi
AutosomalRecessive
Clear
Rod-ConeDysplasia3(rcd3)
AutosomalRecessive
Clear
X-LinkedProgressiveRetinalAtrophy1(XLPRA1)
X-linkedRecessive
Clear
Eyedisorders
POBox.1040FI-00251Helsinki|[email protected]
1/5/2014
MyDogDNAPASS
870023219061842
ChicotedoBRTerradeVeraCruz,TerrierBrazileiro
Testresults-Additionaldisordersfoundinotherbreeds-page3/6
Immunologicaldisorders
Disorder
M odeofinheritance
Result
ARSCID(AutosomalRecessiveSevereCombinedImmunodeficiency)
AutosomalRecessive
Clear
C3deficiency
AutosomalRecessive
Clear
X-linkedSevereCombinedImmunodeficiency(XSCID);mutationoriginally
foundinBassetHound
X-linkedRecessive
Clear
X-linkedSevereCombinedImmunodeficiency(XSCID);mutationoriginally
foundinCardiganWelshCorgi
X-linkedRecessive
Clear
Disorder
M odeofinheritance
Result
HyperuricosuriaandHyperuricemia(HUU)orUrolithiasis
AutosomalRecessive
Clear
PolycysticKidneyDisease(PKD)
AutosomalDominant
Clear
Primaryhyperoxaluria(PH);mutationoriginallyfoundinCotondeTulear
AutosomalRecessive
Clear
X-linkedHereditaryNephropathy(XLHN)
X-linkedRecessive
Clear
Disorder
M odeofinheritance
Result
GlycogenStorageDisease,TypeIa(GSDIa)
AutosomalRecessive
Clear
GlycogenStorageDisease,typeIIorPompe'sdisease
AutosomalRecessive
Clear
GlycogenStorageDisease,typeIIIa(GSDIIIa)
AutosomalRecessive
Clear
HypocatalasiaorAcatalasemia
AutosomalRecessive
Clear
MucopolysaccharidosisTypeIIIA(MPSIIIA);mutationoriginallyfoundin
Dachshund
AutosomalRecessive
Clear
MucopolysaccharidosisTypeVI(MPSVI);mutationoriginallyfoundinPoodle AutosomalRecessive
Clear
PyruvateDehydrogenaseDeficiency
Clear
Kidneydisorders
Metabolicdisorders
AutosomalRecessive
POBox.1040FI-00251Helsinki|[email protected]
1/5/2014
MyDogDNAPASS
870023219061842
ChicotedoBRTerradeVeraCruz,TerrierBrazileiro
Testresults-Additionaldisordersfoundinotherbreeds-page4/6
Musculardisorders
Disorder
M odeofinheritance
Result
CavalierKingCharlesSpanielMuscularDystrophy(CKCS-MD)
X-linkedRecessive
Clear
Duchenne-likeMuscularDystrophy,PembrokeWelshCorgi-type
X-linkedRecessive
Clear
MuscularDystrophy,DuchennetypeorGoldenRetrieverMuscularDystrophy X-linkedRecessive
(GRMD)
Clear
Myotonia;mutationoriginallyfoundinMiniatureSchnauzer
AutosomalRecessive
Clear
MyotubularMyopathy1orX-linkedMyotubularMyopathy
X-linkedRecessive
Clear
Disorder
M odeofinheritance
Result
BenignFamilialJuvenileEpilepsyorRemittingFocalEpilepsy
AutosomalRecessive
Clear
Cerebellarabiotrophyorneonatalcerebellarcorticaldegeneration(NCCD)
AutosomalRecessive
Clear
Fetal-onsetNeuroaxonalDystrophy(FNAD)
AutosomalRecessive
Clear
L-2-Hydroxyglutaricaciduria(L2HGA);mutation1originallyfoundin
StaffordshireBullTerrier
AutosomalRecessive
Clear
L-2-Hydroxyglutaricaciduria(L2HGA);mutation2originallyfoundin
StaffordshireBullTerrier
AutosomalRecessive
Clear
L-2-hydroxyglutaricAciduria(L2HGA),YorkshireTerriermutation
AutosomalRecessive
Clear
NeonatalEncephalopathywithSeizures(NEWS)
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis1(NCL1)
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis10(NCL10)
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis2(NCL2)
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis6(NCL6)
AutosomalRecessive
Clear
NeuronalCeroidLipofuscinosis,type12,mutationoriginallyfoundinTibetan
terrier
AutosomalRecessive
Clear
Polyneuropathy;mutationoriginallyfoundinAlaskanMalamute
AutosomalRecessive
Clear
Polyneuropathy;mutationoriginallyfoundinGreyhound
AutosomalRecessive
Clear
Progressiveearly-onsetcerebellarataxia;mutationoriginallyfoundinFinnish
Hound
AutosomalRecessive
Clear
Neurologicaldisorders
POBox.1040FI-00251Helsinki|[email protected]
1/5/2014
MyDogDNAPASS
870023219061842
ChicotedoBRTerradeVeraCruz,TerrierBrazileiro
Testresults-Additionaldisordersfoundinotherbreeds-page5/6
Neuromusculardisorders
Disorder
M odeofinheritance
Result
AlphaFucosidosis
AutosomalRecessive
Clear
Episodicfalling(EF)
AutosomalRecessive
Clear
GM1Gangliosidosis;mutationoriginallyfoundinAlaskanHusky
AutosomalRecessive
Clear
GM1Gangliosidosis;mutationoriginallyfoundinPortugueseWaterDog
AutosomalRecessive
Clear
GM1Gangliosidosis;mutationoriginallyfoundinShibaDog
AutosomalRecessive
Clear
GM2Gangliosidosis;mutationoriginallyfoundinToyPoodle
AutosomalRecessive
Clear
GloboidCellLeukodystrophy(GLD)orKrabbe'sdisease,Terriermutation
AutosomalRecessive
Clear
GloboidCellLeukodystrophy(GLD)orKrabbe'sdisease;mutationoriginally
foundinIrishSetter
AutosomalRecessive
Clear
HyperekplexiaorStartleDisease
AutosomalRecessive
Clear
Disorder
M odeofinheritance
Result
Chondrodysplasia(dwarfism);mutationoriginallyfoundinNorwegian
ElkhoundandKarelianBearDog
AutosomalRecessive
Clear
CraniomandibularOsteopathy(CMO)
AutosomalDominant
Clear
Osteogenesisimperfecta(OI)orBrittleBoneDisease;mutationoriginally
foundinDachshund
AutosomalRecessive
Clear
SkeletalDysplasia2(SD2)
AutosomalRecessive
Clear
Skeletaldisorders
POBox.1040FI-00251Helsinki|[email protected]
1/5/2014
MyDogDNAPASS
870023219061842
ChicotedoBRTerradeVeraCruz,TerrierBrazileiro
Testresults-Additionaldisordersfoundinotherbreeds-page6/6
Skindisorders
Disorder
M odeofinheritance
Result
EctodermaldysplasiaorSkinFragilitySyndrome(ED-SFS)
AutosomalRecessive
Clear
Epidermolysisbullosa,dystrophic
AutosomalRecessive
Clear
EpidermolyticHyperkeratosisorIchthyosisinNorfolkTerrier
AutosomalRecessive
Clear
LamellarIchthyosis(LI)
AutosomalRecessive
Clear
Musladin-Luekesyndrome(MLS)
AutosomalRecessive
Clear
M odeofinheritance
Result
Otherdisorders
Disorder
CongenitalKeratoconjuctivitisSiccaandIchthyosiformDermatosis(CKCSID) AutosomalRecessive
orDryEyeCurlyCoatSyndrome
Clear
GallbladderMucoceleFormation
AutosomalDominant
Clear
Narcolepsy;mutationoriginallyfoundinDobermann
AutosomalRecessive
Clear
PersistantMullerianDuctSyndrome(PMDS),mutationoriginallyfoundin
MiniatureSchnauzer
AutosomalRecessive
Clear
PrimaryCiliaryDyskinesia(PCD)
AutosomalRecessive
Clear
OnbehalfofGenoscoperLaboratories,
JonasDonner,PhD,HeadofResearchandDevelopment
atGenoscoperLaboratories
POBox.1040FI-00251Helsinki|[email protected]
1/5/2014
MyDogDNAPASS
870023219061842
ChicotedoBRTerradeVeraCruz,TerrierBrazileiro
APPENDIX
Explanationoftheresultsofthetesteddisorders
Autosomalrecessiveinheritance(ARI)
Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdeveloping
andpassingonthedisease/condition.
Carrier-Adogcarriesonecopyofthetestedmutation.Carrierstypicallyhaveanormal,healthy
appearancebutpassonthemutationtoapproximately50%oftheiroffspring.
Affected-Adogcarriestwocopiesofthetestedmutationandisathighorincreasedriskofdeveloping
thedisease/condition.
Autosomaldominantinheritance(ADI)
Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdeveloping
andpassingonthedisease/condition.
Affected-Adogcarriesoneortwocopiesofthetestedmutationandisathighorincreasedriskof
developingthedisease/condition.
X-linkedrecessiveinheritance(X-linked)
Clear-Adogcarriesnocopiesofthetestedmutationandhasnoorreducedlikelihoodofdeveloping
andpassingonthedisease/condition.
Carrier-Femalecarrierstypicallyhaveanormal,healthyappearancebutcarryonecopyofthetested
mutationononeoftheirXchromosomes.AsmalesonlyhaveoneXchromosome,therearenomale
carriers.
Affected-Affectedfemaledogscarrytwomutatedcopiesofthetestedmutation.Affectedmalescarry
onecopyofthetestedmutationontheirsingleXchromosome.Affecteddogsareathighorincreased
riskofdevelopingthedisease/condition.
Pleasenotethatthedescriptionsabovearegeneralizedbasedontypicallyobservedinheritance
patterns.Whenobtainingacarrieroraffectedtestresult,alwaysrefertothecorrespondingonlinetest
documentationformoredetailedinformationontheconditionandanyexceptions.
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