The reliability of DNA tests for inherited diseases
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Transcript of The reliability of DNA tests for inherited diseases
13-7-2015
The reliability of DNA tests for inherited diseases WhichoftheinternationallyofferedDNAtestsforinheriteddiseasesareusefulforcreatinghealthydogbreedsintheNetherlands.
MaaikeFennema(3574717)Prof.Dr.JanRothuizenDr.PeterLeegwater
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Abstract
Thechangeofthe‘’WetDieren’’,bytheDutchgovernment,requiresthebreederstoscreentheirparentaldogsforinheriteddiseases.SincethebreedersandtheveterinarianshavetoapplytheDNAtestsandtheydonothavealltheknowledgeaboutthesetest,thisstudyaimstomakealistincludingalltheavailableDNAtestontheDutchmarket.Toknowiftheofferedtestaresubstantiated,theywillbeevaluatedusingasetofcriteriadevelopedduringthisproject.First,alltheDNAtestweregatheredfromthefourbiggestlaboratoriesfortheDutchmarket,Laboklin,VetGen,VanHaeringenandOptigen.Thisresultedinalistcontaining120differentdiseases.Inthisarticlethefocuswasoncardiovascularandblooddiseases,metabolicandimmuneproblemsandeyedisorders.IftheDNAtestfulfilthecriteriatheywillbepublishedonthewebsiteof‘ExpertisecentrumGeneticaGezelschapsdieren’.Themostimportantcriterionwasthattherewasapeerreviewedarticleavailableaboutthemutationtheytestedon.SoforalltheDNAtests,articlesweresearchedandreviewed.Theresearchresultedinalistofintotal11cardiovascularandblooddiseases,23metabolicandimmuneproblemsand27eyedisorders.
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Introduction
InheriteddiseasesarethemostcommonhealthandwelfareproblemsinpurebredanimalsinTheNetherlands.Thewelfareofanimalshasbecomemoreimportantthelastyearssinceithasbecomeasubjectonthepoliticalagenda,asaresultthe‘WetDieren’(Lid2.62c.)hasbeenchanged.Sincethe1stofJuly2014breedersarerequiredtodoeverythingpossibletoproducehealthyoffspring.Duetothischange,breedersaresupposedtoscreentheparentaldogstheyuseforbreedingforinheriteddiseases.InheriteddiseasesarecausedbyamutationormutationsintheDNAofthedog.DNAtestscanshowifthesemutationsarepresentinindividualanimals.Ifthebreedersknowiftheparentaldogshaveamutationforaparticulardiseaseitispossibletoselectacombinationofparentalanimalswhichwillproduceoffspringthatisclinicallyhealthyfortheexamineddisease.
TherearemanyDNAtestsontheDutchmarket,someofthesetestsaretrustworthybutquiteafewarenotsubstantiatedorevencompletelyunsuited.Fortheveterinarianandforthebreeder,whohastoapplythetestandhastoconverttheoutcomeoftheDNAtestintoaproperbreedingpolicy,itisdifficulttoknowwhichteststheycanuseforareliableoutcome.Byreviewingalltheavailabletestsinascientificallysoundmanneritispossibletomakealistofreliabletests,whichcanbeusedbyveterinariansandbreeders.The‘ExpertisecentrumGeneticaGezelschapsdieren’ofthefacultyveterinarymedicinewillpublishthislistontheirwebsitesothattheveterinarianandbreedercanco-operatetobreedpurebredanimalsashealthyaspossible.AnotherimportantapplicationofDNAdiagnosticsforveterinarians,isthattheycandiagnosethegeneticsusceptibilityofindividualsinapopulationatyoungage,oftenbeforetheonsetofclinicaldisease.Thispermitstheveterinariantodesignanindividualhealthprogramtopreventordecreasetheclinicalstageofthedisease.
ToevaluateiftheDNAtestsareuseful,alistofcriteriahasbeendeveloped.TosetupqualitycriteriaforDNAtestsitisnecessarytounderstandwhichtypesofmoleculargeneticresearchexistandhowtheywork.TherearetwomaintypesofDNAtests.Thefirstisbasedonaknownmutationwhichcausesthedisease,whichisthebestandmostusedmethodtodiagnosethemutationcausingtheinheriteddisease.Thesecondtypeoftestisamarkertestwhichonlymarksthepartofthechromosomewheretheunknowncausalgenelies.Thismethodcanbeusediftheprecisemutationisnotyetknown.Itisalesscertainmethodbecausethegenewhichisbeingtestedoncannolongerbelinkedtothemutationbyrecombinationofthegenes.Thereforethemutationstestispreferredoverthemarkertest.Thereareotherfactorswhichplayaroleinsettingupthecriteria.Thepublishedpeerreviewedliteratureisanimportedone.ThearticlesaboutthemutationsconfirmthatreliableresearchhasbeendoneandthattheDNAtestisbasedonvalidevidence.Itisalsonecessarytoknowforwhichbreedthetestisusefulandhowamutationisinherited.
InthisreportalltheDNAtestsofferedbythefourbiggestlaboratoriesfortheNetherlands,Laboklin,VetGen,VanHaeringenandOptigen,willbescientificallyreviewedtodeterminethevalidityofthesetests.
Thisresearchprojectaims(1)todevelopcriteriatoreviewthequalityandapplicabilityofDNAtestsavailable,and(2)toapplythesecriteriafortheevaluationoftheDNAtestfordogsontheDutchmarket.Inthisprojectthefocuswasoncardiovascularandblooddiseases,metabolicandimmuneproblemsandeyedisorders.
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Material and methods
TheprojectsetsupalistofcriteriaforDNAtestsontheDutchmarket.Averyimportantcriterionwhichmustcomplywitheachtestisthebasisofapeerreviewedpublishedarticle.Whenanarticleaboutamutationispublisheditmaybeassumedthatfundamentalresearchisdoneandthatmethodsandresultshavebeenacceptedbypeersintheresearchfield.TestsbasedonsuchpublishedresultsareconsideredreliableDNAtests.Thearticlesshoulddescribeinwhichbreedthemutationoccursandinwhichcountrythemutationisfound.Itisalsousefultoknowhowthediseaseisinheritedandifthesamediseaseisduetoonemutationintodifferentmutationsinthesamegeneoreventwomutationsindifferentgenesindifferentbreeds.BecausethelistproducedinthisprojectisonlyaboutDNAtestsusefulintheNetherlandsonlythebreedsthatarebredintheNetherlandswereincluded.The‘’RaadvanBeheer’’hasalistofaldogbreedswhoarebredintheNetherlands.SothisisalsoacriterionDNAtestsinthedefinitivelistmustfulfil.
WiththeknowledgeofthecriteriatheavailableliteratureinthePennGendatabasewasused.Inthisdatabaseallthebreedsarelistedwiththeinheriteddiseasestheycanhaveandthemutationwhichcancausethediseaseswithareferencetothepublishedmanuscript.AlsoPubMedwassearchedtofindotherarticlesabouttheofferedDNAtestsandwerereviewedtojudgetheutilityandqualityoftheDNAtests.
TocreatethedefinitivelistofvalidDNAtestallthetestsavailablefromthefourbiggestlaboratories,activeontheNetherlandsmarket,weregathered.ThefourlaboratorieswhichwereexaminedareLaboklin,VetGen,VanHaeringenandOptigen.AllDNAtestswereorderedbybreed.Thisresultedagoodoverviewofwhichtestsareavailable.Thelengthofthelistrequiredadivisionintodifferentorgansystems.Thisprojectfocusedoncardiovascularandblooddiseases,metabolicandimmuneproblemsandeyedisorders.
ToknowifalllaboratoriesbasedtheirDNAtestsonreliablearticlesamailwassenttoaskonwhicharticlestheDNAtestsarebased.Thesemailsenclosedintheappendix.(Appendix5)TheyallusedthedatabaseofPennGen.AfterreviewingallthesearticlesabouttheDNAtestsalistwithalotofinformationabouttheDNAtestwasformed.ForallofferedDNAtestitwasassessedwhetherthemutationwasknownandhowtheresearchwasdone.OnthebasisofthisinformationalltheunsubstantiatedDNAtestshavebeenremovedfromthelistsoonlythereliabletestsarestillonthelist.
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Results
ByweighingthefactorsthatareusefultodetermineiftheDNAtestarevalid,thecriteriaweresetup.FirstwehavetoknowifthereisliteratureavailableforthemutationswheretheDNAtestarebasedon.Itisalsousefultoknowifatestisamarkeroramutationtest.Mutationtestsarebetterbecausetheyindicatethemutationitselfsoitisa100%surethetesteddoghasthemutation.Itisalsoimportanttoknownhowtheeffectofthemutationinherited.IsitrecessiveordominantandautosomalofX-linkedorotherwise?Toreviewalltheliterature,itwasnecessarytoknowwhichclinicalcriteriawereusedtoselectthecaseandcontrolgroupsinDNAresearchaswellasthestepstocometoavalidtest.Itisalsonecessarytoknowwhichbreedisusedtodeterminethemutationbecauseindifferentbreedsdifferentmutationsmayoccur.IfforexamplethemutationisfoundinaBeagleitisnotsureifaLabradorwiththesamediseasehadthesamemutation.Finally,decisionsregardingtheremaininglistshouldbemadebasedoncostoftheDNAtestandthetimeneededforthetestresult.
TheresultofgatheringalltheavailableDNAtestsfromLaboklin,VetGen,VanHaeringenandOptigenisalonglistwithmanyDNAtests.Atthispointthelistcontained120differentdiseasesand188differentbreeds.Notallthediseaseswereofferedforeachbreedbutthelistatthismomentcontains683combinationsofdiseasesandbreeds.(Seeappendix1)InthislistallavailableDNAtestsaresortedbybreed,soitisvisibleperbreedwhichinheriteddiseasecanbetested.Inthislistthereismoreinformationabouteachtest.Mostlythisisinformationthatisfoundonthedifferentsitesofthelaboratories.ThislistcontainsalltheDNAtestsavailableanddoesnotsayanythingaboutthevalidityoftheDNAtests.
Asdescribedabovethelistisdividedintodifferentorgansystemsbecauseofthelengthofthelist.Thisarticleisaboutblooddiseases,metabolicandimmuneproblemsandeyedisorders.Theresultofthiswasthreedifferentlistsforthethreedifferentgroupsofdiseases.(Seeappendix2)
InordertoobtainmoreinformationabouttheDNAtestsandtoknowifalltheavailableDNAtestsarereliable,theliteraturewasreviewed.TheresponsetothemailswehadsenttothelaboratorieswasthattheyallusedthedatabaseofPennGenfortherelevantpublications.(Appendix5).ThereweremanyarticlesinthePennGendatabasewhichhavebeenused.OtherinformationwasobtainedreviewingtheliteratureinPubMed.TheresultofthisresearchisanewlistwithalotmoreinformationabouttheDNAtests.(SeeAppendix3)
Someofthetestwereverywelldescribedinthearticles,forinstanceCoppertoxicosisinBedlingtonTerriers.InthisarticlethemutationisverypreciselydescribedfortheBedlingtonTerriers.Themutationisadeletionintheexon2oftheCOMMD1geneandthismutationisthemaincauseforcoppertoxicosisintheBelingtonTerrier(Forman,2005).InthiscaseitwasverystraightforwardthatthiswasagoodDNAtest.Thiswasthecasewithmanydiseasesofthelist,forinstancedryeyecurlycoatsyndromebytheCavalierKingCharlesSpaniel:thisdiseaseiscausedbyadeletionofasinglebase-pairintheFAM83Hgene.(Forman,Oliver2012)andalsoPyruvatekinasedeficiencyinsixdifferentdogbreeds(Basenjis,Cairnterrier,Westhighlandwhiteterrier,Labradorretriever,PugandBeagle).Forallthesebreedsdifferentmutationswerefound.FortheLabradorretriever,WesthighlandwhiteterrierandtheCairnterriertheyfoundthesamemutation,aC>Tmutationthatresultedinanearlystopcodon.InthePugandtheBeagletheyfoundtwodifferentmissense
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mutationsthatresultedinlossofenzymefunction.(Gultekin,2012)FortheBasenjistheyalsofoundamutationinthegenesoalsoforthisbreedtheDNAtestisvalidated.(Whitney,1995)
AnexampleofanincorrecttestisAchromatopsiatype1ordayblindness.ThisisaDNAtestofferedfortheLabradorretriever,althoughthereisnopeerreviewedpublishedarticleaboutanygeneticmutation.ThereforethiswasconsideredanunsubstantiatedDNAtest.ThesameappliesforHaemophiliaA(FactorVIIIdeficiency).Thereisnoproofinanyarticlethatthemutationforthisdiseaseishasbeenfound.Thereforethistestcanbeconsideredunreliable,meaningitshouldnotbeoffered.
Forotherdiseasesthemutationwasknownforonebreedbutalsoofferedfordifferentbreeds,forexampleFactorVIIdeficiency.FactorVIIisnecessaryfortheinitiationofcoagulationoftheblood.Whenadogisdeficientforthisfactoritwillleadtoableedingdisorder.Thearticleaboutthemutationonlyconcernsthebeagle.(Callan,2006)NeverthelesstheDNAtestforthismutationisalsoofferedforthegiantschnauzer,theAiredaleterrier,theAlaskankleekaiandtheScottishdeerhound.Forthesedogbreedstherearenoscientificarticlesavailable,whichmeanstheDNAtestisnotsupportedinascientificallymanner.InothercaseswhenaDNAtestisoffered,thesupportingarticle,whichshouldsupportthetestbydescribingthemutation,actuallystatesthatthestudyofthemutationhasnotyetrevealedthegene.ThisisthecasefordilatedcardiomyopathyintheDobermanpincher.Thearticleisaboutalargestudywith141Dobermanpinchers.Eventhoughtheyinvestigatedmanygenes,theydidnotfindthespecificgeneforthisdisease.(Mausberg,Theresa-Bernadette2011)Therewereotherarticlesavailable(Meurs,Kathryn2012).Forinstance,onearticledescribedfindinga16-bpdeletioninthePDK4genethatisassociatedwithcardiomyopathyinDobermanpinschers.However,anotherarticlerespondstothatwitharesearchintheEuropeanpopulationwherenoevidencewasfoundforthePDK4geneinvolved.(Owczarek-Lipska,2013)Thisinconclusiveinformationindicatestheneedformoreresearch. ThisisalsothecaseforVon-WillebrandsDisease.Therearethreetypesofthisdiseaseofwhichtype1isthemostcommon.Type2islesscommonbutwhenadogisaffectedtheclinicalsymptomsaremoresevere.Moreover,type3istherarestform,whichisalsotheworstformadogcansufferfrom.TheDNAtestisofferedforalltheVon-WillebrandsDiseasetypesandforalotofbreeds,especiallyVon-WillebrandsDiseaseType1.ThisDNAtestisavailableforelevendifferentdogbreeds.Thearticleaboutthemutation(Rieger,1998)revealsthereisnoknowledgeaboutthegeneticbackgroundofVon-WillebrandsDiseaseType1.Fortheothertypesamutationwasdiscoveredonlyforasmallnumberofdogbreeds.Sothetestisavailableforalotofbreedsbutonlyfoundinacoupleofbreeds.Thisisthesameforprimarylensluxation.Thistestisofferedfor28differentbreedsmostlyterriers.InthearticleabouttheADAMST17genetheyexamined30differentdogbreeds.Only17ofthescreenedbreedshadthemutationintheADAMTS17gene.TheotherbreedsdosuffersfromprimarylensluxationbutthemutationthatcausesthediseaseisnottheADAMTS17geneoradifferentmutationisthesamegene.(Gould,2011)TheavailableDNAtestfortheelevenremainingbreedsarenotsupportedbyanyliterature.
AverydifficultinheriteddiseaseisProgressiveRetinalAtrophy.TherearealotoftypesofPRAandmanygenesplayaroleinthisdisease.OnestudywasperformedonthegenesofPRA.(Downs,Louise2014)Theyscreened231dogs,representing36dogbreeds,for17differentmutationswhichcausePRA.Theresultofthislargestudywasthat129dogswerehomozygous,29dogswerecarriersandtheremaining73dogshadnomutationonthe
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testedalleles.Fromallthe36testedbreedonlyin21breedsamutationswasfound.Anotherinterestingaspectisthatthediseasewasfoundtobeheterogeneousin15ofthese21breeds,soitiscausedbyatleasttwomutations.For102dogsthemutationsremainunknown.Thesenumbersindicatethecomplexityofthisdisease.Inappendix3allthedifferenttypesofPRAandthebreedsaredescribed.
Itwasalsoimportanttolookifthesamediseasehasdifferentmutationsindifferentbreeds.Thiswasthecaseforpyruvatekinasedeficiency.TheBasenjis,Cairnterrier,WesthighlandWhiteTerrierLabradorRetrieverhavethesamemutationbutthePugendtheBeaglehavetwodifferentmutationforthesamedisease.
SincethelistisonlyforDutchbreederandveterinariansonlythebreedsthatareregisteredbythe‘’RaadvanBeheer’’areincluded.Acoupleexamplesofthebreeds,forthosewhothetestsareofferedbutthebreedsarenotregistered,aretheAlaskankleekai,ItalianGreyhound,SmallMunsterlander,PolishLowlandSheepdog.Anothertypesofbreedsarethebreedsthatarecalleddifferentlyindifferentcountries.ForinstancetheAmericanshepherdandtheLlewellinSetter.TheAmericanshepherdistheAmericanname,whereasinEuropetheycallthisbreedtheAustralianshepherd.TheLlewellinSetteristhepurestrainformoftheEnglishsetter.(Sparks,Troy2002)Mostofthesebreeds,whichwerenotdescribedintheliterature,werealreadyremovedfromthelistsincetheydonothavethemutation.
Throughthisresearchthe683originalcombinationsofDNAteststhatareofferedwasreducedtoonlythegoodandsubstantiatedDNAtest.Inappendix4thedefinitivelistisincluded.Thelistcontainselevenofcardiovascularandblooddiseases,23metabolicandimmuneproblemsand27eyedisorders.
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Discussion/Conclusion AftersettingthecriteriafortheDNAtest,manycriteriaseemedveryimportant.Duringtheprojecttheuseallofthecriteriawasrevised,forexample‘inwhichcountryisthetestdesigned?’’.ThetestsaremostlydesignedinothercountriesthanTheNetherlands.Inthearticlesitisoftendescribedwherethedogscomefromandthereforethecountrywherethetestismostlikelymade.However,thisisdifficulttoestablishforalltheDNAtestssothiscriterionisconsideredlessimportant.ForthebestresultsallthetestshavetobetestedinTheNetherlands,whichisanalmostimpossibletask.ThereisalsothecriteriaofhowtheDNAtestsaredeveloped.Thiswashardtoexaminebecausetheliteraturewasoftenonlyaboutthemutation.Thelaboratoriesmakeallthetestthemselves.(Seethemailsinappendix5).Thecriteriaabouthowtheeffectsofthemutationsinheritisusefulbecausethedominantdiseasesareonlyusefultotestifthediseaseonlyoccursinoldageddogs.Otherwisethediseasecanbeseenbeforethedogsisusedforbreeding.TheDNAtestsareparticularlyusefulinordertodetectcarriersofrecessivediseases.ThecriteriaofwhatkindofDNAtestisconducted,markerofmutationtestwasaveryimportantcriteria.WhentheprojectprogresseditappearedthatalltheofferedDNAtestweremutationtest.Thetwocriteriathatarethemostimportantare:(1)ifthereisliteratureavailableand(2)forwhichbreedistheDNAtestcreated?ThesewerethetwocriteriatowhichalltheDNAtestmustcomply. Thereviewingtheliteratureindicatedsomeinterestingfindings.Whengatheringalltheinformationfromthelaboratoriessometimestwodifferentnamesforthesamediseasewasused.Mostlytheyhadthesamemutationsowecouldcombinethem.ForexampleVanHaeringencalledadiseaseMultidrugResistance1whileLaboklincalleditIvermectinhypersensitivity(MDR1genedefect).AlsothedatabaseofPenGenndidnotalwaysprovidetheproperinformation.SomearticlesdidnotexistanymoresootherarticlesweresoughtinPubMed.TherewereacoupleofdiseaseswhichwereofferforallbreedsforexampleThrombasthenia2.ThearticleisonlyaboutthePyreneanMountainDogsoalltheotherbreedsarenotsupported.Therewerealsodifficultieswithsomebreeds,forinstancethecollies.InAmericathecolliesarenotdividedindifferentbreedsbutinEuropetherearealotofdifferentcollies.Otherbreedsarenotregisteredbythe‘’RaadvanBeheer’’sowedidnotincludetheminthedefinitivelist.Sometimesthelaboratoriesclaimtheyfoundamutationbythemselvesforaparticularbreed.Inthiscasethereisnopublicationavailablesowecannotknowwhethertheseclaimsaresubstained.Von-Willebranddiseasetype1isanotsoseverediseasethatisverycommon.Everydog,withtheriskofthisdiseasecouldbetestedbutthatisalittleexaggerated.Itisalsoadvisableonlytestthedogswhoundergosurgeryforexample.
TheoverallconclusionofthisprojectisthatalotofresearchhasbeenonDNAtestsandmanyoftheofferedDNAtestswerevaluabletests.Howevertherearealotoftests,whicharenotbasedonanypeerreviewedarticlesorthearticleswereeasilymisinterpreted.Insomecasesitlookedliketherewasamutationfoundbutactuallythereismoreresearchnecessary.SincethelaboratoriesarestilldoingalotofinvestigationonDNAtests,thelistwillbelongerandmorecompleteoverthecourseofthenextfewyears.
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11
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Appendix 1 Table1Listwithallthediseases.
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
17
All Breeds Caninedegenerativemyelopathy(DM) Autosomaalrecessive SOD1-gene Laboklin 3-5days
SOD1-gene VanHaeringen <20days€79,50
Hiplaxity1/2 Multifactorialorigin VanHaeringen <10days€39,50
Hyperuricemia(HUU) Autosomalrecessive SLC2A9Gene VanHaeringen <10days€39,50
Laboklin 3-5days
Maliganthyperthermia(MH) Autosomaldominant VanHaeringen <10days€39,50
Laboklin 1-2weeks
MultidrugResistance1(MDR1) Autosomalrecessive MDR1Gene VanHaeringen <10days€80,00
Polycythemia Autosomaldominant JAK2Gene VanHaeringen <10days€39,50
Thrombasthenia2 Autosomalrecessive VanHaeringen <10days€39,50
Airedale Terrier FaktorVII-Deficiency Autosomalrecessive Laboklin 3-5days
VetGen $65.00USD
HemophiliaB(FacortIXdeficiency) X-linkedrecessive VetGen $65.00USD
Alaskan Klee Kai FaktorVII-Deficiency Autosomalrecessive Laboklin 3-5days
VetGen $65.00USD
Alaskan malamute Polyneuropathy1 Autosomalrecessive Laboklin 1-2weeks
VanHaeringen <10days€39,50
ConeDegeneration(CD) Autosomalrecessive CNGB3Gene Optigen
American Bulldog Neuronalceroidlipofuscinosis(NCL)10 Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
CSTDGene VetGen $65.00USD
CanineMulti-focalRetinopathy(CMR) Autosomalrecessive VMD2Gene Optigen US$95.00
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
American Cocker Spaniel Phosphofructokinasedeficiency(PFKD) Autosomalrecessive Laboklin 1-2weeks
VetGen $65.00USD
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
FN(FamilialNephropathy) Autosomalrecessive VanHaeringen <10days€110,00
18
American Eskimo Dog prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
2-20%ofcarrierswilldevelopcondition Optigen $90
Thrombopathia2 Autosomalrecessive VanHaeringen <10days€39,50
American Hairless Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
2-20%ofcarrierswilldevelopcondition Optigen $90
American Pitbull Terrier CerebellarAtaxia/Neuronalceroidlipofuscinosis(NCL),4A Autosomalrecessive Optigen 3-4weeks$150
ConeRodDystrophy2(CRD2) Autosomalrecessive Optigen <2weeks$120
American Staffordshire Terrier CerebellarAtaxia/Neuronalceroidlipofuscinosis(NCL),4A Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Optigen 3-4weeks$150
ConeRodDystrophy2(CRD2) Autosomalrecessive VanHaeringen <25days€100,00
Hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
Australian Cattle Dog Cystinuria Autosomaldominant Laboklin 1-2weeks VanHaeringen <10days€39,50
MyotoniaCongenita2 Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
rcd4ProgressiveRetinalAtrophy(rcd4PRA) Autosomalrecessive Laboklin 1-2weeks
C2orf71Gene Optigen $95
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
(sequel )Australian Cattle Dog
Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
19
2-20%ofcarrierswilldevelopcondition Optigen $90
Australian Shepherd CMR1(CanineMultifocalRetinopathy) Autosomalrecessive VanHaeringen <10days€39,50
BEST1gene VetGen $65.00USD
VMD2Gene Optigen US$95.00
CollieEyeAnomalie(CEA) Autosomalrecessive Laboklin 4-6weeks
chromosomenumber37
Optigen $180
CyclicNeutropenia(CN) Autosomalrecessive VetGen $65.00USD
HereditaryCataract(HC) Autosomaldominant HSF4Gene VanHaeringen <10days€39,50
Laboklin 1-2weeks
Autosomalco-dominant HSF4-2Gene Optigen $100
Hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
Ivermectinhypersensitivity(MDR1genedefect) Autosomalrecessive mdr1gene Laboklin 1-2weeks
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
ConeDegeneration(CD) Autosomalrecessive CNGB3Gene Optigen $160
Australian Silky Terrier prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
Australian Stumpy Tail Cattle Dog
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive prcdGene Optigen $195
Basenjis Pyruvatekinasedeficiency(PK) Autosomalrecessive Laboklin 1-2weeks
VetGen $65.00USD
Optigen $80
BasenjiProgressiveRetinalAtrophy(basPRA) Autosomalrecessive Optigen $95
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Basset Thrombopathia Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
X-linkedseverecombinedImmunodeficiency(X-SCID) X-Chromosomal VanHaeringen <10days€39,50
Laboklin 1-2weeks
20
Beagle FactorVIIdeficiency Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 3-5days
VetGen $65.00USD
Primaryopenangleglaucoma(POAG) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
ADAMTS10 Optigen $95
Musladin-Luekesyndrome(MLS) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 3-5days
CobalaminMalabsorption/cubilindeficiency Autosomalrecessive Laboklin 3-5weeks
Neonatalcorticalcerebellarabiotrophy(NCCD) Autosomalrecessive Laboklin 1-2weeks
VanHaeringen <10days€39,50
OsteogenesisImperfecta Autosomaldominant VanHaeringen <10days€39,50
PyruvatekinaseDeficiency3(PKDef) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
VetGen $65.00USD
Bearded Collie CollieEyeAnomalie(CEA) Autosomalrecessive Laboklin 4-6weeks
VanHaeringen <25days€140,00
chromosomenumber37
Optigen $180
Bedlington Terriers Coppertoxicosis Autosomalrecessive Laboklin 1-2weeks
VanHaeringen <10days€39,50
Commd1 VetGen $65.00USD
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Bernese Mountain Dog Von-WillebrandsDiseaseType1 Autosomaldominantvariablepenetrance VanHaeringen <10days€89,00
Laboklin 3-5days
VetGen Binnen2weeks$65.00USD
Bichon Frise Macrothrombocytopenia(MTC) Autosomaldominant beta-1tubulingene
VetGen $65.00USD
21
Black Russian Terrier hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
Boerboel CMR1(CanineMultifocalRetinopathy) Autosomalrecessive VanHaeringen <10days€39,50
VMD2Gene Optigen US$95.00
hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
Bolonka Zwetna prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive prcdGene Optigen $195
Border Collie CollieEyeAnomalie(CEA) Autosomalrecessive Laboklin 4-6weeks
VanHaeringen <25days€140,00
chromosomenumber37
Optigen $180
Ivermectinhypersensitivity(MDR1genedefect) Autosomalrecessive Mdr1gene Laboklin 1-2weeks
Neuronalceroidlipofuscinosis(NCL)5 Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Optigen $95
TrappedNeutrophilSyndrome(TNS) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Optigen $95
CobalaminMalabsorption/cubilindeficiency Autosomalrecessive cubilingene Optigen $95
Boston Terrier HereditaryCataract2(HSF4) Autosomalrecessive HSF4Gene VanHaeringen <10days€39,50
Laboklin 1-2weeks
HSF4Gene VetGen $65.00USD
HSF4-1Gene Optigen $100
CobalaminMalabsorption/cubilindeficiency Autosomalrecessive Laboklin 3-5weeks
Boxer Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Boykin Spaniel CollieEyeAnomalie(CEA) Autosomalrecessive Laboklin 4-6weeks
chromosomenumber37
Optigen $180
Exerciseinducedcollapse(EIC) Autosomalrecessive DNM1gene Laboklin 3-5days
22
Brazilian Terrier MucopolysaccharidoseTypeVII-2 Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Briard Congenitalstationarynightblindness(CSNB) Autosomalrecessive RPE65gene Laboklin 1-2weeks
VanHaeringen <10days€39,50
RPE65Gene Optigen $135
Braittany Spaniel C3Deficiency Autosomalrecessive VanHaeringen <10days€39,50
Bull Dog CanineMultifocalRetinopathy(CMR1&CMR2) Autosomalrecessive BEST1gene VetGen $65.00USD
hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
Bull Mastiff CanineMultifocalRetinopathy(CMR1&CMR2) Autosomalrecessive BEST1gene VetGen $65.00USD
VMD2Gene Optigen US$95.00
DominantProgressiveRetinalAtrophy(PRA) Autosomaldominant VanHaeringen <10days€39,50
Laboklin 1-2weeks
Optigen ong.2weeks$120
Bull Terrier Polycystickidneydisease(PKD1) Autosomaldominant VanHaeringen <10days€39,50
Laboklin 1-2weeks
HemophiliaB(FacortIXdeficiency) X-linkedrecessive VetGen $65.00USD
Cairn Terrier GloboidCellLeukodystrophy/KrabbesDisease Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Pyruvatekinasedeficiency(PK) Autosomalrecessive Laboklin 1-2weeks
VetGen $65.00USD
HemophiliaB(FacortIXdeficiency) X-linkedrecessive VetGen $65.00USD
Cane Corsos CMR1(CanineMultifocalRetinopathy) Autosomalrecessive vanHaeringen <10days€39,50
BEST1gene VetGen $65.00USD
VMD2Gene Optigen US$95.00
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Cardigen Welsh Corgi rcd3ProgressiveRetinalAtrophy(rcd3PRA) Autosomalrecessive vanHaeringen <10days€39,50
VetGen $65.00USD
23
PDE6AGene Optigen $80
Cavalier King Charles Spaniel Dryeyecurlycoatsyndrome(CCS) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
EpisodicFalling(EF) Autosomalrecessive Laboklin 3-5days
VanHaeringen <20days€59,50
Musculardystrophy(MD) X-chromosomal-recessive Laboklin 1-2weeks
Thrombocytopaenia Autosomalrecessive VanHaeringen <10days€39,50
Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Chesapeake Bay Retriever Ectodermaldysplasia/Skinfragilitysyndrome(ED/SFS) Autosomalrecessive Laboklin 1-2weeks
Exerciseinducedcollapse(EIC) Autosomalrecessive DNM1gene Laboklin 3-5days
DNM1gene VanHaeringen <20days€59,50
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Chihuahua Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Chinese Crested Dog CanineMultipleSystemDegeneration(CMSD) Autosomalrecessive Laboklin 1-2weeks
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Von-WillebrandsDiseaseType2 Autosomalrecessive VetGen $65.00USD
rcd3ProgressiveRetinalAtrophy(rcd3PRA) Autosomalrecessive PDE6AGene Optigen $80
Chinese Foo Dog Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
2-20%ofcarrierswilldevelopcondition Optigen $90
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
24
Clumber Spaniel PyruvateDehydrogenasePhosphatase1(PDP1) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
VetGen $65.00USD
Cockapoo prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Phosphofructokinasedeficiency(PFKD) Autosomalrecessive Optigen $80
English Cocker Spaniel FamilialNephropathy(FN) Autosomalrecessive VanHaeringen <10days€110,00
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive prcdGene Optigen $195
Phosphofructokinasedeficiency(PFKD) Autosomalrecessive VetGen $65.00USD
Optigen $80
Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Collies GrayCollieSyndrome(CyclicNeutropenia) Autosomalrecessive VanHaeringen <10days€39,50
CollieEyeAnomaly(CEA) Autosomalrecessive VanHaeringen <25days€140,00
Laboklin 1-2weeks
VetGen $65.00USD
chromosomenumber37
Optigen $180
Ivermectinhypersensitivity(MDR1genedefect) Autosomalrecessive mdr1gene Laboklin 1-2weeks
rcd2ProgressiveRetinalAtrophy(rcd2PRA) Autosomalrecessive VanHaeringen <25days€187,50
Laboklin 1-2weeks
Optigen $180
Von-WillebrandsDiseaseType2 Autosomalrecessive VetGen $65.00USD
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Coton de Tulear Bandara’sNeonatalAtaxia(BNAt) Autosomalrecessive GRM1gene VetGen $65.00USD
VanHaeringen <10days€39,50
CMR2(CanineMultifocalRetinopathy) Autosomalrecessive vanHaeringen <10days€39,50
BEST1gene VetGen $65.00USD
25
VMD2Gene Optigen US$95.00
Von-WillebrandsDiseaseType1 Autosomaldominant(variablepenetrance) VanHaeringen <10days€89,00
Laboklin 3-5days
VetGen Binnen2weeks$65.00USD
Curly Coated Retrievers Exerciseinducedcollapse(EIC) Autosomalrecessive DNM1gene Laboklin 3-5days
DNM1gene VanHaeringen <20days€59,50
GlycogenStorageDiseaseGSDTypeIIIa(GSDIIIa) Autosomalrecessive AGLGene VanHaeringen <20days€44,50
Laboklin 1-2weeks
Cone-RodDystrophy1-PRA(Cord1-PRA) Autosomalrecessive VetGen $65.00USD
Czechoslovakian Wolfdog Pituitarydwarfism Autosomalrecessive VanHaeringen <20days€69,50
Laboklin 1-2weeks
Dachshund OsteogenesisImperfecta Autosomalrecessive Laboklin 1-2weeks
VanHaeringen <10days€39,50
ConeRodDystrophy4-PRA(CRD4-PRA) Autosomalrecessive VanHaeringen <10days€39,50
Cone-RodDystrophy1-PRA(Cord1-PRA) Autosomalrecessive VetGen $65.00USD
Progressiveretinalatrophy(crd-PRA) Autosomalrecessive NPHP4gene Laboklin 1-2weeks
MucopolysaccharidosisTypeIIIa Autosomalrecessive VanHaeringen <10days€39,50
Narcolepsy Autosomalrecessive VanHaeringen <20days€49,50
Hcrtr2Gene Optigen $130
Neuronalceroidlipofuscinosis(NCL)1/2 Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Dalmation hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Doberman Pincher Albinism(White) Autosomalrecessive OCA4gene VetGen $65.00USD
DilatedCardiomyopathy Autosomalrecessive VanHaeringen <10days€39,50
VetGen $65.00USD
26
Narcolepsy Autosomalrecessive VanHaeringen <20days€49,50
Laboklin 1-2weeks
Hcrtr2Gene Optigen $130
Von-WillebrandsDiseaseType1 Autosomaldominant(variablepenetrance) VanHaeringen <10days€89,00
VetGen Binnen2weeks$65.00USD
Laboklin 3-5days
Dogue de Bordeaux CanineMulti-focalRetinopathy(CMR) Autosomalrecessive VMD2Gene Optigen US$95.00
Drentsche Patrijshond Von-WillebrandsDiseaseType1 Autosomaldominant(variablepenetrance) VanHaeringen <10days€89,00
VetGen Binnen2weeks$65.00USD
Laboklin 3-5days
Dutch Kooiker VonWillebranddisease3-2 Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
VetGen $65.00USD
Dwarf Poodle prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
English Bulldog CanineMultifocalRetinopathy(CMR1&CMR2) Autosomalrecessive BEST1gene VetGen $65.00USD
English Cocker Spaniel FamilialNephropathy(FN) Autosomalrecessive VanHaeringen <10days€110,00
Laboklin 1-2weeks
Optigen $95
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive prcdGene Optigen $195
VanHaeringen <25days€150,00
prcdGene Optigen $195
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
(sequel) English Cocker Spaniel Phosphofructokinasedeficiency(PFKD) Autosomalrecessive VetGen $65.00USD
Optigen $80
Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
English Mastiff DominantProgressiveRetinalAtrophy(PRA) Autosomaldominant Laboklin 1-2weeks
27
CanineMultifocalRetinopathy(CMR1&CMR2) Autosomalrecessive BEST1gene VetGen $65.00USD
English Setter Neuronalceroidlipofuscinosis(NCL)8 Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
CSTDgene VetGen $65.00USD
rcd4ProgressiveRetinalAtrophy(rcd4PRA) Autosomalrecessive Laboklin 1-2weeks
C2orf71Gene Optigen $95
English Shepherd prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive prcdGene Optigen $195
English Springer Spaniel Fucosidosis Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 102weeks
FamilialNephropathy(FN) Autosomalrecessive Laboklin 1-2weeks
Phosphofructokinasedeficiency(PFKD) Autosomalrecessive Laboklin 1-2weeks
VetGen $65.00USD
Optigen $80
Cone-RodDystrophy1-PRA(Cord1-PRA) Autosomalrecessive VetGen $65.00USD
Tremor,X-linked X-Chromosomal VanHaeringen <10days€39,50
English Toy Spaniel Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Entlebucher Mountain Dog prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Farm Collie rcd2ProgressiveRetinalAtrophy(rcd2PRA) Autosomalrecessive VanHaeringen <25days€187,50
Finnish Hound CerebellarAtaxia,progressiveearly-onset Autosomalrecessive VanHaeringen <10days€39,50
SEL1Lgene Laboklin 1-2weeks
GlycogenstoragediseasetypeII(PompeDisease) Autosomalrecessive Laboklin 1-2weeks
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Finnish Lapphund prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
French Bulldog Hereditarycataract(HC) Autosomalrecessive HSF4gene Laboklin 1-2weeks
HSF4Gene VetGen $65.00USD
28
HSF4-1Gene Optigen $100
Frisian Water Dogs SCID2 Autosomalrecessive VanHaeringen <10days€39,50
Fox Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
German Pinscher Von-WillebrandsDiseaseType1 Autosomaldominant(variablepenetrance) VanHaeringen <10days€89,00
VetGen Binnen2weeks$65.00USD
Laboklin 3-5days
German Pointer Junctionalepidermolysisbullosa(JEB) Autosomalrecessive Laboklin 1-2weeks
Von-WillebrandsDiseaseType2 Autosomalrecessive VanHaeringen <10days€69,00
VetGen $65.00USD
Laboklin 3-5days
HemophiliaB(FacortIXdeficiency) X-linkedrecessive VetGen $65.00USD
German Shepherd CanineLeukocyteAdhesionDeficiency(CLAD),Type3 Autosomalrecessive VanHaeringen <10days€39,50
hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
MucopolysaccharidosisTypeVII Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Ivermectinhypersensitivity(MDR1genedefect) Autosomalrecessive mdr1gene Laboklin 1-2weeks
Pituitarydwarfism Autosomalrecessive VanHaeringen <20days€69,50
Laboklin 1-2weeks
RenalCystadenocarcinomaandNodularDermatofibrosis Autosomaldominant VetGen $65.00USD
VanHaeringen <10days€39,50
German Shorthaired Pointer ConeDegeneration Autosomalrecessive VanHaeringen <10days€39,50
CNGB3Gene Optigen $160
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
German Spaniel Phosphofructokinasedeficiency(PFKD) Autosomalrecessive Laboklin 1-2weeks
German Spitz prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive prcdGene Optigen $195
German WIrehaired Pointer HemophiliaB(FacortIXdeficiency) X-linkedrecessive VetGen $65.00USD
Von-WillebrandsDiseaseType2 Autosomalrecessive VetGen $65.00USD
29
Giant Schnauzer FactorVII-Deficiency Autosomalrecessive Laboklin 3-5days
VetGen $65.00USD
hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
Neuroaxonaldystrophy(NAD) Autosomalrecessive VanHaeringen <10days€39,50
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Glen of Imaal Terrier ConeRodDystrophy3(CRD3) Autosomalrecessive VanHaeringen <25days€100,00
ADAM9Gene Optigen $120
Golden Retriever Epidermolysisbullosa,dystrophic(RDEB) Autosomalrecessive VanHaeringen <10days€39,50
GRPRA1(ProgressiveRetinalAtrophy) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Optigen $100
GRPRA2(ProgressiveRetinalAtrophy) Autosomalrecessive Optigen $100
Ichthyosis2 Autosomalrecessive VanHaeringen <10days€39,50
Optigen $120
MuscularDystrophy(GRMD) X-Chromosomal VanHaeringen <10days€39,50
Laboklin 1-2weeks
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Gordon Setter CerebellarAtaxia2 Autosomalrecessive VanHaeringen <10days€39,50
rcd4ProgressiveRetinalAtrophy(rcd4PRA) Autosomalrecessive vanHaeringen <10days€39,50
Laboklin 1-2weeks
C2orf71Gene Optigen $95
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Great Dane CentronuclearMyopathy(cnm) Autosomalrecessive Laboklin 3-5days
Great Pyrenees CMR1(CanineMultifocalRetinopathy) Autosomalrecessive vanHaeringen <10days€39,50
VMD2Gene Optigen US$95.00
30
Great Swiss Mountain Dog BleedingdisorderduetoP2RY12defect Mono,autosomaalrecessief P2RY12Gene VanHaeringen <10days€39,50
Greyhound Hereditarypolyneuropathy(HN) Autosomalrecessive Laboklin 1-2weeks
VanHaeringen <10days€39,50
VetGen $65.00USD
NDRG1gene Optigen $95
Havanese HaemophiliaA(FactorVIII) X-Chromosomal VanHaeringen <20days€49,50
Laboklin 2-5days
Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Hokkaido CollieEyeAnomalie(CEA) Autosomalrecessive Laboklin 4-6weeks
VanHaeringen <25days€140,00
chromosomenumber37
Optigen $180
Husky GM1-Gangliosidosis Autosomalrecessive Laboklin 1-2weeks
Irish Setters CanineLeukocyteAdhesionDeficiency(CLAD),Type1 Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Optigen $135
Globoidcellleukodystrophy(Krabbedisease) Autosomalrecessive Laboklin 1-2weeks
Neuronalceroidlipofuscinosis(NCL)8 Autosomalrecessive VanHaeringen <10days€39,50
rcd1ProgressiveRetinalAtrophy(rcd1PRA) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Optigen $120
PDEBgene VetGen $65.00USD
rcd4ProgressiveRetinalAtrophy(rcd4PRA) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
C2orf71Gene Optigen $95
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Irish Terrier DigitalHyperkeratosis(CornyFeet) Autosomalrecessive Laboklin 1-2weeks
31
VanHaeringen <10days€39,50
Irish Wolfhound StartleDiseaseorHyperekplexia Autosomalrecessive Laboklin 1-2weeks
Italian Greyhound IGPRA1(ProgressiveRetinalAtrophy) AutosomalDominantwithIncompletePenetrance
Optigen $105
Jack Russell Terrier Lateonsetataxia(LOA) Autosomalrecessive (CAPN1)-gene Laboklin 1-2weeks
PrimaryLensLuxation(PLL) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 3-5days
2-20%ofcarrierswilldevelopcondition Optigen $90
SCID Autosomalrecessive VanHaeringen <10days€39,50
Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Spinocerebellarataxia(SCA) Autosomalrecessive Laboklin 3-5days
Jagd Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Japanese chin/spitz
Karerlian Beardog prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Kerry Blue Terrier CanineMultipleSystemDegeneration(CMSD) Autosomalrecessive Laboklin 1-2weeks
Von-WillebrandsDiseaseType1 Autosomaldominant(variablepenetrance) VanHaeringen <10days€89,00
VetGen Binnen2weeks$65.00USD
Laboklin 3-5days
Kelpie CerebellarAbiotrophy Autosomalrecessive VanHaeringen <10days€39,50
Kromfohrländer DigitalHyperkeratosis(CornyFeet) Autosomalrecessive Laboklin 1-2weeks
VanHaeringen <10days€39,50
Kuvasz prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
32
Labrador Retriever CentronuclearMyopathy(CNMorHMLR) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 3-5days
Cystinuria Autosomalrecessive Laboklin 1-2weeks
VanHaeringen <10days€39,50
Exerciseinducedcollapse(EIC) Autosomalrecessive DNM1gene Laboklin 3-5days
DNM1gene VanHaeringen <20days€59,50
HereditaryNasalParakeratosis(HNPK) Autosomalrecessive VanHaeringen <20days€91,50
Laboklin 3-5days
SUV39H2gene Optigen $120
Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Myotubularmyopathy(MTM) X-Chromosomal VanHaeringen <10days€39,50
Narcolepsy Autosomalrecessive VanHaeringen <20days€49,50
Laboklin 1-2weeks
Hcrtr2Gene Optigen $130
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
PyruvatekinaseDeficiency(PKDef) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
VetGen $65.00USD
RetinalDysplasiaRetinalFolds+OculoSkeletalDysplasia(RD+OSD)1 Autosomaldominant(incompletepenetrance) VanHaeringen <10days€39,50
Laboklin 4-6weeks
Optigen $160
SkeletalDysplasia2(SD2) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
AchromatopsiaType1/DayBlindness Autosomalrecessive Optigen $100
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Lagotto Romagnolo Juvenileepilepsy Autosomalrecessive VanHaeringen <10days€39,50
33
Laboklin 3-5werkdays
LGI2gene Optigen $95
Lakeland Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
2-20%ofcarrierswilldevelopcondition Optigen $90
Lancashire Heeler CollieEyeAnomalie(CEA) Autosomalrecessive Laboklin 4-6weeks
VanHaeringen <25days€140,00
chromosomenumber37
Optigen $180
PrimaryLensLuxation(PLL) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 3-5days
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Landseer Cystinuria Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Thrombopathia3 Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Lapponian Herder GlycogenstoragediseasetypeII(PompeDisease) Autosomalrecessive Laboklin 1-2weeks
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
CMR(CanineMulti-focalRetinopathy) Autosomalrecessive VMD2Gene Optigen US$95.00
Large munsterlander hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
Leonberger LeonbergerPolyneuropathy1(LPN1) Autosomalrecessive Laboklin 1-2weeks
Lhasa Apso HemophiliaB(FacortIXdeficiency) X-linkedrecessive VetGen $65.00USD
Llewellin Setter rcd4ProgressiveRetinalAtrophy(rcd4PRA) Autosomalrecessive C2orf71Gene Optigen $95
Longhaired Whippet Ivermectinhypersensitivity(MDR1genedefect) Autosomalrecessive mdr1gene Laboklin 1-2weeks
CollieEyeAnomaly(CEA) Autosomalrecessive chromosomenumber37
Optigen $180
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
34
Lucas Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
2-20%ofcarrierswilldevelopcondition Optigen $90
Maltese GlycogenStorageDiseaseTypel(GSDI) Autosomalrecessive VanHaeringen <10days€39,50
Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Maltipoo prcdProgressiceRetinalAtrophy(prcdPRA) Autosomalrecessive prcdGene Optigen $195
Manchester Terrier Von-WillebrandsDiseaseType1 Autosomaldominant(variablepenetrance) VanHaeringen <10days€89,00
VetGen Binnen2weeks$65.00USD
Laboklin 3-5days
Markiesje prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Mastiffs CMR1(CanineMultifocalRetinopathy) Autosomalrecessive VanHaeringen <10days€39,50
VMD2Gene Optigen US$95.00
DominantProgressiveRetinalAtrophy(PRA) Autosomaldominant VanHaeringen <10days€39,50
Optigen ong.2weeks$120
Macrothrombocytopenia(MTC) Autosomaldominant beta-1tubulingene
VetGen $65.00USD
McNab Ivermectinhypersensitivity(MDR1genedefect) Autosomalrecessive mdr1gene Laboklin 1-2weeks
Miniature American Shepherd CMR1(CanineMultifocalRetinopathy) Autosomalrecessive VanHaeringen <10days€39,50
VMD2Gene Optigen US$95.00
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
ConeDegeneration(CD) Autosomalrecessive CNGB3Gene Optigen $160
CollieEyeAnomaly(CEA) Autosomalrecessive chromosomenumber37
Optigen $180
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Miniature Australian Shepherd CanineMulti-focalRetinopathy(CMR) Autosomalrecessive VMD2Gene Optigen US$95.00
ConeDegeneration(CD) Autosomalrecessive CNGB3Gene Optigen $160
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive prcdGene Optigen $195
35
CollieEyeAnomaly(CEA) Autosomalrecessive chromosomenumber37
Optigen $180
HereditaryCateract(HD) Autosomalco-dominant HSF4-2Gene Optigen $100
Miniature Bull Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Miniature Pinscher Cystinuria Autosomaldominant Laboklin 1-2weeks
VanHaeringen <10days€39,50
Miniature Poodle prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Miniature Schnauzer MyotoniaCongenita Autosomalrecessive VanHaeringen <20days€49,50
Laboklin 3-5days
TypeAProgressiveRetinalAtrophy(TypeAPRA) Autosomalrecessive VanHaeringen <25days€132,50
Optigen $160
PersistentMuellerianDuctSyndrome(PMDS) sex-limitedautosomalrecessivetrait MISRIIGene Optigen $95
Moyen Poodle prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
Newfoundland Cystinuria Autosomalrecessive Laboklin 3-5days
GeneSLC3A1 VanHaeringen <10days€39,50
VetGen $65.00USD
Optigen $80
Norfolk Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
Norwegian Elkhound prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
Norwich Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
36
2-20%ofcarrierswilldevelopcondition Optigen $90
Nova Scotia Duck Tolling Retriever
CollieEyeAnomalie(CEA) Autosomalrecessive Laboklin 4-6weeks
VanHaeringen <25days€140,00
chromosomenumber37
Optigen $180
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Old Danish Pointer CongenitalMyasthenicSyndrome Autosomalrecessive VanHaeringen <10days€39,50
Old English Sheepdog (Bobtail) CerebellarAtaxia2 Autosomalrecessive VanHaeringen <10days€39,50
Exerciseinducedcollapse(EIC) Autosomalrecessive DNM1gene Laboklin 3-5days
Ivermectinhypersensitivity(MDR1genedefect) Autosomalrecessive mdr1gene Laboklin 1-2weeks
PrimaryciliaryDyskinesia(PCD) Autosomalrecessive Laboklin 1-2weeks
VanHaeringen <10days€39,50
CollieEyeAnomalie(CEA) Autosomalrecessive VanHaeringen <25days€140,00
Otterhound Thrombasthenia Autosomalrecessive VanHaeringen <10days€39,50
Papillion Pap-ProgressiveRetinalAtrophy1(Pap-PRA1) Autosomalrecessive VanHaeringen <25days€100,00
Laboklin 1-2weeks
Optigen $90
Cone-RodDystrophy1-PRA(Cord1-PRA) Autosomalrecessive VetGen $65.00USD
Von-WillebrandsDiseaseType1 Autosomaldominant(variablepenetrance) VanHaeringen <10days€89,00
VetGen Binnen2weeks$65.00USD
Laboklin 3-5days
Parson Russell Terrier Lateonsetataxia(LOA) Autosomalrecessive CAPN1-gene Laboklin 1-2weeks
hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
(sequel) Parson Russell Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
37
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Spinocerebellarataxia(SCA) Autosomalrecessive Laboklin 3-5days
Patterdale Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Pembroke Welsh Corgi Exerciseinducedcollapse(EIC) Autosomalrecessive DNM1gene Laboklin 3-5days
Von-WillebrandsDiseaseType1 Autosomaldominant(variablepenetrance) VanHaeringen <10days€89,00
VetGen Binnen2weeks$65.00USD
Laboklin 3-5days
Perro de Presa Canarios CMR1(CanineMultifocalRetinopathy) Autosomalrecessive VanHaeringen <10days€39,50
VMD2Gene Optigen US$95.00
Phalene Pap-ProgressiveRetinalAtrophy1(Pap-PRA1) Autosomalrecessive VanHaeringen <25days€100,00
Laboklin 1-2weeks
Optigen $90
Pitbull Terrier ConeRodDystrophy2(CRD2) Autosomalrecessive VanHaeringen <25days€100,00
hyperuricosuria(HU) Autosomalrecessive VetGen $65.00USD
Polish Lowland Sheepdog rcd4ProgressiveRetinalAtrophy(rcd4PRA) Autosomalrecessive Laboklin 1-2weeks
C2orf71Gene Optigen $95
Pomeranian VitaminD-deficiencyrickets,typeII Autosomalrecessive VanHaeringen <10days€39,50
Poodle NeonatalEncephalopathy Autosomalrecessive ATF2Gene VanHaeringen <10days€39,50
Laboklin 1-2weeks
VetGen $65.00USD
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
(sequel) Poodle Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulin VetGen $65.00USD
38
gene
Von-WillebrandsDiseaseType1 Autosomaldominant(variablepenetrance) VanHaeringen <10days€89,00
VetGen Binnen2weeks$65.00USD
Laboklin 3-5days
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive prcdGene Optigen $195
Portuguese Water Dog GM1-Gangliosidosis Autosomalrecessive Laboklin 1-2weeks
Optigen $120
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Pug NecrotizingMeningoencephalitis(NME) Autosomalrecessive(withvariablepenetrance) Laboklin 1-2weeks
Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
PyruvatekinaseDeficiency2(PKDef) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
VetGen $65.00USD
Rat Terrier CongenitalHypothyroidism(CHG)3 Autosomalrecessive VanHaeringen <10days€39,50
Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Rhodesian Ridgeback HaemophiliaB(factorIXdeficiency) X-chromosomal-recessive Laboklin 3-5days
VetGen $65.00USD
Rough Collie rcd2ProgressiveRetinalAtrophy(rcd2PRA) Autosomalrecessive VanHaeringen <25days€187,50
Optigen $180
CollieEyeAnomaly(CEA) Autosomalrecessive chromosomenumber37
Optigen $180
Saarloos Wolfdog Pituitarydwarfism Autosomalrecessive VanHaeringen <20days€69,50
Laboklin 1-2weeks
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
39
Samoyed FamilialNephropathy(FN) X-chromosomal-recessive Laboklin 1-2weeks
VetGen $65.00USD
RetinalDysplasiaRetinalFolds+OculoSkeletalDysplasia(RD+OSD)2 Autosomalrecessive VanHaeringen <25days€132,50
Autosomal-dominantwithincompletepenetrance
Laboklin 4-6weeks
Autosomaldominantwithincompletepenetrance
Optigen $160
XLinkedProgressiveRetinalAtrophy1(XLPRA1) X-Chromosomal VanHaeringen <10days€39,50
Optigen $150
Schapendoes gPRA(ProgressiveRetinalAtrophy) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Schipperke prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Scottish Deerhound FaktorVII-Deficiency Autosomalrecessive Laboklin 3-5days
VetGen $65.00USD
Scottish Terrier Von-WillebrandsDiseaseType3 Autosomalrecessive VanHaeringen <10days€49,50
VetGen $65.00USD
Laboklin 1-2weeks
Sealyham Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Shetland Sheepdog CollieEyeAnomalie(CEA) Autosomalrecessive Laboklin 4-6weeks
VanHaeringen <25days€140,00
chromosomenumber37
Optigen $180
Ivermectinhypersensitivity(MDR1genedefect) Autosomalrecessive mdr1gene Laboklin 1-2weeks
Von-WillebrandsDiseaseType3 Autosomalrecessive Laboklin 1-2weeks
VetGen $65.00USD
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
40
Shiba Inu GM1Gangliosidosis Autosomalrecessive VanHaeringen <10days€39,50
Shih Tzu Prekallikreindeficiency Autosomalrecessive VanHaeringen <10days€39,50
Macrothrombocytopenia(MTC) autosomaldominant beta-1tubulingene
VetGen $65.00USD
Siberian Husky XLinkedProgressiveRetinalAtrophy1(XLPRA1) X-Chromosomal VanHaeringen <10days€39,50
Optigen $150
Silken Windhound Ivermectinhypersensitivity(MDR1genedefect) Autosomalrecessive mdr1gene Laboklin 1-2weeks
CollieEyeAnomaly(CEA) Autosomalrecessive chromosomenumber37
Optigen $180
Silky Terrier prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive prcdGene Optigen $195
Sloughi rcd1aProgressiveRetinalAtrophy(rcd1aPRA) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
PDE6Bgene Optigen $80
Small Munsterlander rcd4ProgressiveRetinalAtrophy(rcd4PRA) Autosomalrecessive Laboklin 1-2weeks
C2orf71Gene Optigen $95
Smooth Collies rcd2ProgressiveRetinalAtrophy(rcd2PRA) Autosomalrecessive VanHaeringen <25days€187,50
Optigen $180
CollieEyeAnomaly(CEA) Autosomalrecessive chromosomenumber37
Optigen $180
Soft-Coated Wheaten Terrier Proteinlosingnephropathy(PLN) Autosomalrecessive Laboklin 3-5days
Spaniel breeds Phosphofructokinasedeficiency(PFK) Autosomalrecessive VanHaeringen <10days€39,50
Spanish Water Dog CongenitalHypothyreosis(CHG) Autosomalrecessive Laboklin 1-2weeks
VanHaeringen <10days€39,50
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Stabijhoun Von-WillebrandsDiseaseType1 Autosomaldominant(variablepenetrance) VanHaeringen <10days€89,00
VetGen Binnen2weeks$65.00USD
Laboklin 3-5days
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
41
Staffordshire Bull Terrier HereditaryCataract2(HSF4) Autosomalrecessive HSF4Gene VanHaeringen <10days€39,50
HSF4Gene VetGen $65.00USD
HSF4gene Laboklin 1-2weeks
HSF4-1Gene Optigen $100
L2-Hydroxyglutaricaciduria(L2-HGA) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 3-5days
Sussex Spaniel PyruvateDehydrogenasePhosphatase1(PDP1) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
VetGen $65.00USD
Swedish Lapphund GlycogenstoragediseasetypeII(PompeDisease) Autosomalrecessive Laboklin 1-2weeks
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Teddy Roosevelt Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
2-20%ofcarrierswilldevelopcondition Optigen $90
Tenterfield Terrier CongenitalHypothyroidism(CHG)2 Autosomalrecessive VanHaeringen <10days€39,50
Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Tibetan Terrier Neuronalceroidlipofuscinosis(NCL) Autosomalrecessive Laboklin 1-2weeks
PrimaryLensLuxation(PLL) Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 3-5days
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
rcd4ProgressiveRetinalAtrophy(rcd4PRA) Autosomalrecessive Laboklin 1-2weeks
C2orf71Gene Optigen $95
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
42
Toy Fox Terrier CongenitalHypothyroidism(CHG)3 Autosomalrecessive VanHaeringen <10days€39,50
Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Toy Poodle Gangliosidosis,GM2,typeII Autosomalrecessive VanHaeringen <10days€39,50
prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Volpino Italiano Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Wäller Hereditarycataract(HC) Autosomaldominant HSF4gene Laboklin 1-2weeks
Weimaraner Hypomyelination(ShakingPuppySyndrome) Autosomalrecessive Laboklin 1-2weeks
Welsh Corgi MuscularDystrophy,Duchennetype(MDM) X-Chromosomal VanHaeringen <10days€39,50
rcd3ProgressiveRetinalAtrophy(rcd3PRA) Autosomalrecessive Laboklin 1-2weeks
X-linkedseverecombinedImmunodeficiency(X-SCID) X-Chromosomal VanHaeringen <10days€39,50
Laboklin 1-2weeks
Welsh Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Westhighland White Terrier GloboidCellLeukodystrophy/KrabbesDisease Autosomalrecessive VanHaeringen <10days€39,50
Laboklin 1-2weeks
Pyruvatekinasedeficiency(PK) Autosomalrecessive Laboklin 1-2weeks
VetGen $65.00USD
Westphalia Terrier Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
Breeds Disease Mono/poly, recessive/dominant Mutation Which lab. Results Time/Price
43
Whippet CollieEyeAnomalie(CEA) Autosomalrecessive Laboklin 4-6weeks
Optigen $180
MuscularHypertrophy Autosomaldominant VanHaeringen <10days€39,50
Autosomalrecessive Laboklin 1-2weeks
Phosphofructokinasedeficiency(PFKD) Autosomalrecessive Laboklin 1-2weeks
VetGen $65.00USD
White Shepherd Ivermectinhypersensitivity(MDR1genedefect) Autosomalrecessive mdr1gene Laboklin 1-2weeks
Whire-haired Fox Terrier Primarylensluxation(PLL) Autosomalrecessive VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
Wire-haired Pointer Exerciseinducedcollapse(EIC) Autosomalrecessive DNM1gene Laboklin 3-5days
Wolfdog DilatedCardiomyopathy Autosomalrecessive VanHaeringen <10days€39,50
Yorkshire Terrier prcdProgressiveRetinalAtrophy(prcdPRA) Autosomalrecessive VanHaeringen <25days€150,00
prcdGene Optigen $195
Primarylensluxation(PLL) Autosomalrecessive Laboklin 3-5days
VanHaeringen <10days€39,50
Carriershaveasmallchanceofgettingsick. VetGen $65.00USD
2-20%ofcarrierswilldevelopcondition Optigen $90
L2-HydroxyglutaricAciduria Autosomalrecessive VetGen $65.00USD
Appendix 2 Table2Cardiovascularandblooddiseases
Diseases Breeds
Bleeding disorder due to P2RY12 defect GreatSwissMountainDog
Cyclic Neutropenia (CN) (Gray Collie Syndrome) AustralianShepherd Collies
Dilated Cardiomyopathy DobermanPincher,Wolfdog
Factor VII - Deficiency GiantSchnauzer Beagle AiredaleTerrier
AlaskanKleeKai ScottishDeerhound
Haemophilia A (Factor VIII) Havanese
Haemophilia B (Factor IX deficiency) RhodesianRidgeback LhasaApso GermanWirehairedPointer
AiredaleTerrier BullTerrier CairnTerrier
GermanPointer
Macrothrombocytopenia (MTC) Boxer LabradorRetriever BichonFrise
CavalierKingCharlesSpaniel ShihTzu Poodle
Chihuahua ParsonRussellTerrier MiniaturePoodle
EnglishCockerSpaniel Mastiffs Maltese
EnglishToySpaniel JackRussellTerrier Havanese
Polycythemia AllBreeds
Thrombasthenia Otterhound
Thrombasthenia 2 AllBreeds
Thrombocytopaenia CavalierKingCharlesSpaniel
Thrombopathia Basset Landseer AmericanEskimoDog
Von-Willebrands Disease Type 1 BerneseMountainDog Stabijhoun Poodle
CotondeTulear PembrokeWelshCorgi Papillion
DobermanPincher ManchesterTerrier KerryBlueTerrier
DrentschePatrijshond GermanPinscher
Von-Willebrands Disease Type 2 ChineseCrestedDog GermanWirehairedPointer GermanPointer
Collies
Von-Willebrands Disease Type 3 DutchKooiker ScottishTerrier ShetlandSheepdog
Table3MetabolicandImmuneproblems
Diseases Breeds
C3 Deficiency BrittanySpaniel
Canine Leukocyte Adhesion Deficiency (CLAD), Type 1 IrishSetters
Canine Leukocyte Adhesion Deficiency (CLAD), Type 3 GermanShepherd
Cobalamin Malabsorption/cubilin deficiency Beagle BorderCollie BostonTerrier
Congenital Hypothyreosis (CHG) SpanishWaterDog
Congenital Hypothyreosis (CHG) 2 TenterfieldTerrier RatTerrier
Congenital Hypothyreosis (CHG) 3 ToyFoxTerrier
Copper toxicosis BedlingtonTerriers
Fucosidosis EnglishSpringerSpaniel
Glycogen Storage Disease GSD Type IIIa (GSDIIIa) CurlyCoatedRetrievers
45
Glycogen Storage Disease Type l (GSD I) Maltese
Ivermectin hypersensitivity (MDR1 gene defect) AustralianShepherd WhiteShepherd SilkenWindhound
Bobtail ShetlandSheepdog McNab
BorderCollie LonghairedWhippet GermanShepherd
Collies AllBreeds
Mucopolysaccharidose Type VII - 2 BrazilianTerrier
Mucopolysaccharidosis Type IIIa Dachshund
Mucopolysaccharidosis Type VII GermanShepherd
Phosphofructokinase deficiency (PFKD) Spanielbreeds Whippet GermanSpaniel
AmericanCockerSpaniel EnglishSpringerSpaniel EnglishCockerSpaniel
Cockapoo
Prekallikrein deficiency ShihTzu
Pyruvate Dehydrogenase Phosphatase 1 (PDP1) ClumberSpaniel SussexSpaniel
Pyruvate kinase Deficiency (PKDef) Basenjis LabradorRetriever WesthighlandWhiteTerrier
CairnTerrier
Pyruvate kinase Deficiency 2 (PKDef) Pug
Pyruvate kinase Deficiency 3 (PKDef) Beagle
Severe combined Immunodeficiency (X-linked-SCID) Basset WelshCorgi
Severe combined Immunodeficiency (SCID) JackRussellTerrier
Severe combined Immunodeficiency 2(SCID2) FrisianWaterDogs
Vitamin D-deficiency rickets, type II Pomeranian
Glycogen storage disease type II (Pompe Disease) FinnishHound LapponianHerder SwedishLapphund
Table4Eyedisorders
Diseases Breeds
Achromatopsia Type 1/Day Blindness LabradorRetriever
Albinism (White) DobermanPincher
Canine Multi-focal Retinopathy (CMR 1) AustralianShepherd AmericanBulldog DoguedeBordeaux
Boerboel MiniatureAustralianShepherd LapponianHerder
CaneCorsos PerrodePresaCanarios MiniatureAmericanShepherd
GreatPyrenees Mastiffs
Canine Multi-focal Retinopathy (CMR 2) CotondeTulear
Canine Multi-focal Retinopathy (CMR1 & CMR2)
BullDog BullMastiff EnglishBulldog
EnglishMastiff
Collie Eye Anomalie (CEA) AustralianShepherd MiniatureAustralianShepherd MiniatureAmericanShepherd
BeardedCollie RoughCollie SilkenWindhound
BorderCollie LonghairedWhippet Whippet
BoykinSpaniel ShetlandSheepdog Collies
Hokkaido Sheepdogs NovaScotiaDuckTollingRetriever
LancashireHeeler SmoothCollies
Cone Degeneration (CD) GermanShorthairedPointer MiniatureAustralianShepherd MiniatureAmericanShepherd
46
Alaskanmalamute AustralianShepherd
Cone Rod Dystrophy 2 (CRD2) AmericanPitbullTerrier GlenofImaalTerrier PitbullTerrier
AmericanStaffordshireTerrier
Cone Rod Dystrophy 4-PRA (CRD4-PRA) Dachshund
Cone-Rod Dystrophy 1-PRA (Cord1-PRA) CurlyCoatedRetrievers Papillion EnglishSpringerSpaniel
Dachshund
Congenital stationary night blindness (CSNB) Briard
Dry eye curly coat syndrome (CCS) CavalierKingCharlesSpaniel
Hereditary Cataract (HC) AustralianShepherd Wäller MiniatureAustralianShepherd
FrenchBulldog
Hereditary Cataract 2 (HSF4) BostonTerrier StaffordshireBullTerrier
Primary lens luxation (PLL) AmericanEskimoDog Pug RatTerrier
AmericanHairlessTerrier SealyhamTerrier TeddyRooseveltTerrier
AustralianCattleDog TenterfieldTerrier TibetanTerrier
ChineseCrestedDog PatterdaleTerrier ParsonRussellTerrier
ChineseFooDog NorwichTerrier NorfolkTerrier
FoxTerrier MiniatureBullTerrier ToyFoxTerrier
JackRussellTerrier VolpinoItaliano WelshTerrier
JagdTerrier WestphaliaTerrier Whire-hairedFoxTerrier
LakelandTerrier YorkshireTerrier LucasTerrier
LancashireHeeler
Primary open angle glaucoma (POAG) Beagle
Progressive Retinal Atrophy (prcd PRA) Maltipoo NorwegianElkhound FinnishLapphund
AmericanCockerSpaniel NovaScotiaDuckTollingRetriever
GermanSpitz
AmericanEskimoDog Poodle GiantSchnauzer
AustralianCattleDog PortugueseWaterDog GoldenRetriever
AustralianShepherd Schipperke KarelianBeardog
AustralianSilkyTerrier SilkyTerrier Kuvasz
AustralianStumpyTailCattleDog
SpanishWaterDog LabradorRetriever
BolonkaZwetna SwedishLapphund LapponianHerder
ChesapeakeBayRetriever ToyPoodle Markiesje
ChineseCrestedDog YorkshireTerrier MiniatureAmericanShepherd
Cockapoo EntlebucherMountainDog MiniatureAustralianShepherd
DwarfPoodle EnglishShepherd MiniaturePoodle
EnglishCockerSpaniel MoyenPoodle
Progressive Retinal Atrophy -Dominant- (PRA) BullMastiff Mastiffs EnglishMastiff
Progressive Retinal Atrophy (Basenji PRA) Basenjis
Progressive Retinal Atrophy (crd-PRA) Dachshund
Progressive Retinal Atrophy (gPRA) Schapendoes
Progressive Retinal Atrophy (GR PRA1 and 2) GoldenRetriever
Progressive Retinal Atrophy (IG PRA1) ItalianGreyhound
Progressive Retinal Atrophy (rcd1 PRA) IrishSetters Sloughi
47
Progressive Retinal Atrophy (rcd2 PRA) Collies SmoothCollies RoughCollie
FarmCollie
Progressive Retinal Atrophy (rcd3 PRA) CardigenWelshCorgi ChineseCrestedDog WelshCorgi
Progressive Retinal Atrophy (rcd4 PRA) AustralianCattleDog TibetanTerrier SmallMunsterlander
EnglishSetter PolishLowlandSheepdog LlewellinSetter
GordonSetter IrishSetters
Progressive Retinal Atrophy (Type A PRA) MiniatureSchnauzer
Progressive Retinal Atrophy 1 (Pap-PRA1) Papillion Phalene
Progressive Retinal Atrophy 1 (X Linked PRA1) Samoyed SiberianHusky
Retinal Dysplasia Retinal Folds OculoSkeletal Dysplasia (RD+OSD) 1 and 2
LabradorRetriever Samoyed
48
Appendix 3
CardiovascularsystemandblooddisordersBleedingdisorderduetoP2RY12defect GreatSwissMountainDog Mutationdescribedinarticle. (Boudreaux,2011)CyclicNeutropenia(CN) AustralianShepherd Noarticlefoundaboutthemutation. Collies Mutationdescribedinarticle. (Benson,2003)DilatedCardiomyopathy DobermanPincher Thisarticleisaboutthattheydonotknowthemutationyet.Wolfhound Noarticlefoundaboutthemutation.
(Mausberg,Theresa-Bernadette2011)FactorVII-Deficiency GiantSchnauzer NoarticlefoundaboutthemutationBeagle Mutationdescribedinarticle (Callan,MB2006)AiredaleTerrier NoarticlefoundaboutthemutationAlaskanKleeKai Breedisnotregisteredbythe‘’RaadvanBeheer’’ScottishDeerhound ThemutationisonlydescribedfortheBeagleHaemophiliaA(FactorVIII) Havanese Noarticlefoundaboutthemutation HaemophiliaB(FactorIXdeficiency)RhodesianRidgeback Mutationdescribedinarticle. (Mischke,2011)AiredaleTerrier Mutationdescribedinarticle. (Mauser,1996)BullTerrier Mutationdescribedinarticle. (Mauser,1996)CairnTerrier Mutationdescribedinarticlebutnobreed.(Evans,1989)GermanPointer Noarticlefoundaboutthemutation GermanWirehairedPointer Mutationdescribedinarticle. (Brooks,Marjory2003)LhasaApso Mutationdescribedinarticle. (Mauser,1996)Macrothrombocytopenia(MTC) Boxer ArticleinGenPennisaboutanotherdiseasenootherarticlefound.CavalierKingCharlesSpaniel Mutationdescribedinarticle (Davis,2008)Chihuahua,EnglishCockerSpaniel,EnglishToySpaniel,Havanese,JackRussellTerrier,Maltese,Mastiffs,MiniaturePoodle,ParsonRussellTerrier,Poodle,ShihTzu,BichonFrise,LabradorRetriever ThemutationonlydescribedintheCavalierKingCharlesSpaniel.Polycythemia AllBreeds OnlytestedonacoupleofbreedsMaltese,poodle,YorkshireTerrierandWestHighlandWhiteTerrierMutationdescribedinarticle.
(Beurlet,Stephanie2011)Thrombasthenia Otterhound Mutationdescribedinarticle. (Boudreaux,2001)
49
Thrombasthenia2 AllBreeds Noarticlefoundaboutthemutationaboutallbreeds.PyreneeseBerghond Mutationdescribedinarticle. (Lipscomb,2000) Thrombocytopaenia CavalierKingCharlesSpaniel Noarticlefoundaboutthemutation.Thrombopathia Basset,AmericanEskimoDog,Landseer Mutationdescribedinarticle(Boudreaux,Mary2007)Von-WillebrandsDiseaseType1BerneseMountainDog,CotondeTulear,DobermanPincher,DrentschePatrijshond,GermanPinscher,KerryBlueTerrier,ManchesterTerrier,Papillion,PembrokeWelshCorgi,Poodle,Stabyhoun. Articledescribesnomutationisyetfound.(Rieger,M.1998)Von-WillebrandsDiseaseType2ChineseCrestedDog,Collies,GermanPointer Noarticlefoundaboutthemutation.Germanwirehairedpointer Mutationdescribedinarticle(Kramer,2004) Von-WillebrandsDiseaseType3DutchKooiker,ScottishTerrier,ShetlandSheepdog Mutationdescribedinarticle(Rieger,M.1998)
Metabolicandimmunediseases C3Deficiency BrittanySpaniel Mutationdescribedinarticle(Ameratunga,1998) CanineLeukocyteAdhesionDeficiency(CLAD),Type1 IrishSetters Mutationdescribedinarticle(Kijas,1999)CanineLeukocyteAdhesionDeficiency(CLAD),Type3Germanshepherd Mutationdescribedinarticle(Boudreaux,2010)CobalaminMalabsorption/cubilindeficiency Beagle Mutationdescribedinarticle(Fyfe,2014)BorderCollie Mutationdescribedinarticle(Fyfe,John2013)BostonTerrier Noarticlefoundaboutthemutation.CongenitalHypothyreosis(CHG)1,2and3SpanishWaterDog,RatTerrier,ToyFoxTerrier Noarticlefoundaboutthemutation.TenterfieldTerriër Mutationdescribedinarticle(Dodgson,2012)Coppertoxicosis BedlingtonTerriers Mutationdescribedinarticle(Forman,2005)Fucosidosis Englishspringerspaniel Mutationdescribedinarticle(Skelly,1999)GlycogenStorageDiseaseTypel(GSDI)Maltese Mutationdescribedinarticle (Kishnani,1997)GlycogenStorageDiseaseGSDTypeIIIa(GSDIIIa)CurlyCoatedRetrievers Mutationdescribedinarticle (Gregory,Brittany2007)
50
Ivermectinhypersensitivity(MDR1genedefect)AllBreed OnlytestedonacoupleofbreedsAustralianShepherd,Collies,BorderCollie,ShetlandSheepdog,WhiteShepherd,GermanShepherdLonghairedWhippet,SilkenWindhound Mutationdescribedinarticle (Mealey,Katrina2008)Bobtail Noarticlefoundaboutthemutation.McNab Breedisnotregisteredbythe‘’RaadvanBeheer’’. MucopolysaccharidoseTypeVII-2 BrazilianTerrier Mutationdescribedinarticle(Hytonen,2012) MucopolysaccharidosisTypeVII GermanShepherd Mutationdescribedinarticle(SilversteinDombrowski,Deborah2004)MucopolysaccharidosisTypeIIIaDachshund Mutationdescribedinarticle(Aronovich,EL2000)Phosphofructokinasedeficiency(PFKD) AmericanCockerSpaniel,GermanSpaniel,Whippetn Mutationdescribedinarticle(Giger,U1992)Cockapoo Noarticlefoundaboutthemutation. EnglishCockerSpaniel Noarticlefoundaboutthemutation. EnglishSpringerSpaniel Mutationdescribedinarticle (Smith,1996) PrekallikreindeficiencyShihTzu Mutationdescribedinarticle (Okawa,Takumi2011)PyruvateDehydrogenasePhosphatase1(PDP1) ClumberSpaniel,SussexSpaniel Mutationdescribedinarticle(Cameron,Jessie2007)PyruvatekinaseDeficiency(PKDef)Basenjis Mutationdescribedinarticle(Whitney,1995)CairnTerrier Mutationdescribedinarticle(Gultekin,2012)WesthighlandWhiteTerrier Mutationdescribedinarticle(Skelly,1999)LabradorRetriever Mutationdescribedinarticle(Gultekin,2012)Type2Pug Mutationdescribedinarticle(Gultekin,2012)Type3Beagle Mutationdescribedinarticle(Gultekin,2012)SeverecombinedImmunodeficiency(X-linked-SCID) Basset,WelshCorgi Mutationdescribedinarticle(Perryman,2004)SeverecombinedImmunodeficiency(SCID) JackRussellTerrier Mutationdescribedinarticle(Meek,2001)SeverecombinedImmunodeficiency2(SCID2) FrisianWaterDogs Mutationdescribedinarticle(Verfuurden,2011)TrappedNeutrophilSyndrome(TNS)BorderCollie Mutationdescribedinarticle(Mizukami,Keijiro2012)VitaminD-deficiencyrickets,typeII Pomeranian Mutationdescribedinarticle.(LeVine,2009)GlycogenstoragediseasetypeII(PompeDisease) FinnishHound NoarticlefoundaboutthemutationLapponianHerder,SwedishLapphund Mutationdescribedinarticle(Seppälä,Eija2013)
51
EyediseasesAchromatopsiaType1/DayBlindness LabradorRetriever NoarticlefoundaboutthemutationAlbinism(White) DobermanPincher Mutationdescribedinarticle (Winkler,Paige2014)
CanineMulti-focalRetinopathy(CMR)AustralianShepherd Mutationdescribedinarticle (Hoffmann,Ingo2012)Boerboel Mutationdescribedinarticle (Gornik2014) GreatPyrenees,Mastiffs, Mutationdescribedinarticle (Guziewicz,Karina2007)AmericanBulldog,CaneCorso,DoguedeBordeaux,MiniatureAustralianShepherd,LapponianHerder,BullDog,BullMastiff,EnglishBulldog,EnglishMastiff
NoarticlefoundaboutthemutationMiniatureAmericanShepherd,PerrodePresaCanariosBreedsarenotregisteredbythe‘’RaadvanBeheer’’CanineMulti-focalRetinopathy(CMR2)CotondeTulear Mutationdescribedinarticle(Guziewicz,Karina2007)CollieEyeAnomalie(CEA) AustralianShepherd,BeardedCollie,BorderCollie,BoykinSpaniel,LancashireHeeler,NovaScotiaDuckTollingRetriever,Sheepdogs,ShetlandSheepdog,Whippet,Collies,LonghairedWhippet,MiniatureAustralianShepherd,RoughCollie,SmoothColliesMutationdescribedinarticle(Parker,Heidi2007)Hokkaido Mutationdescribedinarticle. (Mizukami,Keijiro2012)SilkenWindhound Noarticlefoundaboutthemutation ConeDegeneration(CD)GermanShorthairedPointer,Alaskanmalamute, Mutationdescribedinarticle
(Sidjanin,Duska2002) AustralianShepherd,MiniatureAustralianShepherdNoarticlefoundaboutthemutationConeRodDystrophy2(CRD2) AmericanPitbullTerrier,AmericanStaffordshireTerrierMutationdescribedinarticle.
(Goldstein,Orly2013)PitbullTerrier Noarticlefoundaboutthemutation ConeRodDystrophy3(CRD3)GlenofImaalTerrier Mutationdescribedinarticle.(Goldstein,Orly2010)ConeRodDystrophy4-PRA(CRD4-PRA) Dachshund NoarticlefoundaboutthemutationCone-RodDystrophy1-PRA(Cord1-PRA) Dachshund Mutationdescribedinarticle(Miyadera,Keiko2009)EnglishSpringerSpanielMutationdescribedinarticle (Downs,Louise2014)Papillion,CurlyCoatedRetriever NoarticlefoundaboutthemutationCongenitalstationarynightblindness(CSNB) Briard Mutationdescribedinarticle (Aguirre,1998)
Dryeyecurlycoatsyndrome(CCS) CavalierKingCharlesSpaniel Mutationdescribedinarticle (Forman,Oliver2012)
52
HereditaryCataract(HC) AustralianShepherd Mutationdescribedinarticle (Mellersh,Cathryn2006)FrenchBulldog,Wäller,MiniatureAustralianShepherdNoarticlefoundaboutthemutationHereditaryCataract2(HSF4) BostonTerrier, StaffordshireBullTerrierMutationdescribedinarticle(Mellersh,Cathryn2006)Primarylensluxation(PLL) AustralianCattleDog,ChineseCrestedDog,MiniatureBullTerrier,JackRussellTerrier,JagdTerrier,LancashireHeeler,,ParsonRussellTerrier,PatterdaleTerrier,RatTerrier,SealyhamTerrier,TenterfieldTerrier,TibetanTerrier,ToyFoxTerrier,VolpinoItaliano,WelshTerrier,Whire-hairedFoxTerrier,YorkshireTerrier
Mutationdescribedinarticle(Gould,David2011)AmericanEskimoDog,AmericanHairlessTerrier,ChineseFooDog,FoxTerrier,LakelandTerrier,LucasTerrier,NorfolkTerrier,NorwichTerrier,Pug,TeddyRooseveltTerrier,WestphaliaTerrier. NoarticlefoundaboutthemutationPrimaryopenangleglaucoma(POAG) Beagle Mutationdescribedinarticle (Olson,LanaM2011)ProgressiveRetinalAtrophy(prcdPRA) Maltipoo,AustralianSilkyTerrier,BolonkaZwetna,EnglishShepherd,GermanSpitz,GiantSchnauzer,Schipperke NoarticlefoundaboutthemutationAmericanCockerSpaniel,AmericanEskimoDog,AustralianCattleDog,AustralianShepherd,AustralianStumpyTailCattleDog,ChesapeakeBayRetriever,ChineseCrestedDog,Cockapoo,DwarfPoodle,EnglishCockerSpaniel,EntlebucherMountainDog,FinnishLapphund,GoldenRetriever,KarelianBeardog,Kuvasz,LabradorRetriever,LapponianHerder,Markiesje,MiniatureAustralianShepherd,MiniaturePoodle,MoyenPoodle,NorwegianElkhound,NovaScotiaDuckTollingRetriever,Poodle,PortugueseWaterDog,SilkyTerrier,SpanishWaterDog,SwedishLapphund,ToyPoodle,YorkshireTerrier Mutationdescribedinarticle(Zangerl,Barbara2006)ProgressiveRetinalAtrophy(Dominant-PRA) BullMastiff,EnglishMastiff Mutationdescribedinarticle.(Downs,Louise2014)ProgressiveRetinalAtrophy(BasenjiPRA) Basenjis Mutationdescribedinarticle(Goldstein,Orly2013)ProgressiveRetinalAtrophy(gPRA) Schapendoes Mutationdescribedinarticle(Downs,Louise2014)ProgressiveRetinalAtrophy(GRPRA1) GoldenRetriever Mutationdescribedinarticle(Downs,Louise2014)ProgressiveRetinalAtrophy(GRPRA2) GoldenRetriever Mutationdescribedinarticle(Downs,Louise2014)ProgressiveRetinalAtrophy(IGPRA1)ItalianGreyhound Noarticlefoundaboutthemutation ProgressiveRetinalAtrophy(rcd1PRA)IrishSetters Mutationdescribedinarticle(Downs,Louise2014)Sloughi Mutationdescribedinarticle(Dekomien,G2000)ProgressiveRetinalAtrophy(rcd2PRA) FarmCollie,RoughCollies,SmoothColliesMutationdescribedinarticle(Kukekova,AnnaV2009)ProgressiveRetinalAtrophy(rcd3PRA) CardigenWelshCorgi,ChineseCrestedDog Mutationdescribedinarticle(Petersen-Jones,SM1999)WelshCorgi Noarticlefoundaboutthemutation
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ProgressiveRetinalAtrophy(rcd4PRA) AustralianCattleDog,LlewellinSetter,PolishLowlandSheepdog,SmallMunsterlanderNoarticlefoundaboutthemutation.Englishsetter Noarticlefoundaboutthemutation.Gordonsetter,IrishSetters Mutationdescribedinarticle(Downs,2013)Tibetanterrier Mutationdescribedinarticle.(Downs,Louise2014)ProgressiveRetinalAtrophy(TypeAPRA) MiniatureSchnauzer Mutationdescribedinarticle(Downs,Louise2014)ProgressiveRetinalAtrophy1(Pap-PRA1) Papillion,Phalene Mutationdescribedinarticle(Ahonen,Saija2013)ProgressiveRetinalAtrophy1(XLinkedPRA1)Samoyed,SiberianHusky Mutationdescribedinarticle(Zhang,Qi2002)RetinalDysplasiaRetinalFoldsOculoSkeletalDysplasia(RD+OSD)1 LabradorRetriever,Samoyed Mutationdescribedinarticle (Goldstein,Orly2010)
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Appendix 4
CardiovascularsystemandblooddisordersTable5DefinitivelistforgoodDNAtests
Disease Breed Bleeding disorder due to P2RY12
defect GreatSwissMountainDog
Cycl ic Neutropenia (CN) ColliesFactor VI I - Defic iency Beagle
Haemophil ia B (Factor IX def ic iency)
Rhodesianridgeback
AiredaleTerrier BullTerrier
Germanwirehairedpointer LhasaApso
Macrothrombocytopenia (MTC) Boxer CavalierKingCharlesSpaniel
Polycythemia Maltese Poodle
YorkshireTerrier WestHighlandWhiteTerrier
Thrombasthenia Otterhound Thrombasthenia 2 PyreneeseBerghond
Thrombopathia Basset AmericanEskimoDog
LandseerVon-Wil lebrands Disease Type 2 GermanWirehairedPointerVon-Wil lebrands Disease Type 3 DutchKooiker
ScottishTerrier ShetlandSheepdog
Metabolicandimmunediseases
Table6DefinitivelistforgoodDNAtests
Disease Breed C3 Defic iency BrittanySpaniel
Canine Leukocyte Adhesion Defic iency (CLAD), Type 1
IrishSetters
Canine Leukocyte Adhesion Defic iency (CLAD), Type 3
Germanshepherd
Cobalamin Malabsorption/cubi l in def ic iency Beagle BorderCollie
Congenital Hypothyreosis (CHG) 2 TenterfieldTerriërCopper toxicosis BedlingtonTerriers
Fucosidosis EnglishspringerspanielGlycogen Storage Disease Type l (GSD I) MalteseGlycogen Storage Disease GSD Type I I Ia
(GSDII Ia) CurlyCoatedRetrievers
Ivermectin hypersensit iv ity (MDR1 gene defect)
AustralianShepherd
Collies
55
BorderCollie ShetlandSheepdog WhiteShepherd
GermanShepherd LonghairedWhippet
SilkenWindhoundMucopolysaccharidose Type VI I - 2 BrazilianTerrier
Mucopolysaccharidosis Type VI I GermanShepherdMucopolysaccharidosis Type I I Ia Dachshund
Phosphofructokinase defic iency (PFKD) AmericanCockerSpaniel GermanSpaniel Whippet
EnglishSpringerSpaniel Prekal l ikrein defic iency ShihTzu
Pyruvate Dehydrogenase Phosphatase 1 (PDP1)
ClumberSpaniel,SussexSpaniel
Pyruvate k inase Defic iency (PKDef) Basenjis CairnTerrier
WesthighlandWhiteTerrier LabradorRetriever Type2Pug Type3Beagle
Severe combined Immunodefic iency (X- l inked-SCID)
Basset
WelshCorgiSevere combined Immunodefic iency (SCID) JackRussellTerrier
Severe combined Immunodefic iency 2(SCID2) FrisianWaterDogs Trapped Neutrophi l Syndrome (TNS) BorderCollieVitamin D-defic iency r ickets, type I I Pomeranian
Glycogen storage disease type I I (Pompe Disease)
LapponianHerder
SwedishLapphund
EyediseasesTable7DefinitivelistforgoodDNAtests
Disease BreedAlbinism(White) DobermanPincher
CanineMulti-focalRetinopathy(CMR) AustralianShepherd Boerboel
GreatPyrenees Mastiffs
CanineMulti-focalRetinopathy(CMR2) CotondeTulearCollieEyeAnomalie(CEA) AustralianShepherd
BeardedCollie BorderCollie
BoykinSpaniel Hokkaido LancashireHeeler NovaScotiaDuckTollingRetriever Sheepdog ShetlandSheepdog Whippet Collies LonghairedWhippet
56
MiniatureAustralianShepherd RoughCollies SmoothCollies
ConeDegeneration(CD) GermanShorthairedPointer Alaskanmalamute
ConeRodDystrophy2(CRD2) AmericanPitbullTerrier AmericanStaffordshireTerrier
ConeRodDystrophy3(CRD3) GlenofImaalTerrier Cone-RodDystrophy1-PRA(Cord1-PRA) Dachshund
EnglishSpringerSpanielCongenitalstationarynightblindness(CSNB) Briard
Dryeyecurlycoatsyndrome(CCS) CavalierKingCharlesSpaniel HereditaryCataract(HC) AustralianShepherd
HereditaryCataract2(HSF4) BostonTerrier StaffordshireBullTerrier
Primarylensluxation(PLL) AustralianCattleDog ChineseCrestedDog MiniatureBullTerrier
JackRussellTerrier JagdTerrier
LancashireHeeler ParsonRussellTerrier PatterdaleTerrier RatTerrier SealyhamTerrier TenterfieldTerrier TibetanTerrier ToyFoxTerrier VolpinoItaliano WelshTerrier Whire-hairedFoxTerrier YorkshireTerrier
Primaryopenangleglaucoma(POAG) BeagleProgressiveRetinalAtrophy(prcdPRA) AmericanCockerSpaniel
AmericanEskimoDog AustralianCattleDog
AustralianShepherd AustralianStumpyTailCattleDog ChesapeakeBayRetriever
ChineseCrestedDog Cockapoo
DwarfPoodle EnglishCockerSpaniel EntlebucherMountainDog FinnishLapphund GoldenRetriever KarelianBeardog Kuvasz LabradorRetriever LapponianHerder Markiesje MiniatureAustralianShepherd MiniaturePoodle MoyenPoodle NorwegianElkhound NovaScotiaDuckTollingRetriever Poodle
57
PortugueseWaterDog SilkyTerrier SpanishWaterDog SwedishLapphund ToyPoodle YorkshireTerrier
ProgressiveRetinalAtrophy-Dominant-(PRA) BullMastiff EnglishMastiff
ProgressiveRetinalAtrophy(gPRA) Schapendoes ProgressiveRetinalAtrophy(GRPRA1) GoldenRetrieverProgressiveRetinalAtrophy(GRPRA2) GoldenRetrieverProgressiveRetinalAtrophy(rcd1PRA) IrishSetters
Sloughi ProgressiveRetinalAtrophy(rcd2PRA) FarmCollie
RoughCollies SmoothCollies
ProgressiveRetinalAtrophy(rcd3PRA) CardigenWelshCorgi ChineseCrestedDog
ProgressiveRetinalAtrophy(rcd4PRA) Gordonsetter IrishSetters
TibetanterrierProgressiveRetinalAtrophy(TypeAPRA) MiniatureSchnauzer ProgressiveRetinalAtrophy1(Pap-PRA1) Papillion,
PhaleneProgressiveRetinalAtrophy1(XLinkedPRA1) Samoyed
SiberianHusky
RetinalDysplasiaRetinalFoldsOculoSkeletalDysplasia(RD+OSD)1
LabradorRetriever
Samoyed