Additional Genetic Health Conditions
Multiple Drug Sensitivity (ABCB1)
Identified in Australian Cattle Dogs, Australian Shepherds, and more
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P2Y12 Receptor Platelet Disorder (P2Y12)
Identified in Greater Swiss Mountain Dogs
Hemophilia B (F9 Exon 7, Terrier Variant)
Hemophilia B (F9 Exon 7, Rhodesian Ridgeback Variant)
Identified in Rhodesian Ridgebacks
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Factor VII Deficiency (F7 Exon 5)
Identified in Airedale Terriers, Alaskan Malamutes, and more
Hemophilia A (F8 Exon 10, Boxer Variant)
Hemophilia A (F8 Exon 11, German Shepherd Variant 1)
Identified in Berger Blanc Suisse, Czechoslovakian Vlcaks, and more
Hemophilia A (F8 Exon 1, German Shepherd Variant 2)
Identified in Berger Blanc Suisse, Czechoslovakian Vlcaks, and more
Thrombopathia (RASGRP1 Exon 5, Basset Hound Variant)
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Thrombopathia (RASGRP1 Exon 8, Landseer Variant)
Identified in Landseers and Newfoundlands
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Thrombopathia (RASGRP1 Exon 5, American Eskimo Dog Variant)
Identified in American Eskimo Dogs
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Von Willebrand Disease Type III, Type III vWD (VWF Exon 4, Terrier Variant)
Identified in Cesky Terriers and Scottish Terriers
Von Willebrand Disease Type III, Type III vWD (VWF Exon 7, Shetland Sheepdog Variant)
Identified in Shetland Sheepdogs
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Von Willebrand Disease Type II, Type II vWD (VWF, Pointer Variant)
Identified in German Longhaired Pointers, German Shorthaired Pointers, and more
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Canine Leukocyte Adhesion Deficiency Type I, CLAD I (ITGB2, Setter Variant)
Identified in Irish Red and White Setters and Irish Setters
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Canine Leukocyte Adhesion Deficiency Type III, CLAD III (FERMT3, German Shepherd Variant)
Identified in Berger Blanc Suisse, Czechoslovakian Vlcaks, and more
Congenital Macrothrombocytopenia (TUBB1 Exon 1, Cairn and Norfolk Terrier Variant)
Identified in Cairn Terriers, Norfolk Terriers, and more
Canine Elliptocytosis (SPTB Exon 30)
Identified in English Labrador Retrievers and Labrador Retrievers
Glanzmann's Thrombasthenia Type I (ITGA2B Exon 13, Great Pyrenees Variant)
Glanzmann's Thrombasthenia Type I (ITGA2B Exon 12, Otterhound Variant)
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Prekallikrein Deficiency (KLKB1 Exon 8)
Pyruvate Kinase Deficiency (PKLR Exon 5, Basenji Variant)
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Pyruvate Kinase Deficiency (PKLR Exon 7, Labrador Retriever Variant)
Identified in English Labrador Retrievers and Labrador Retrievers
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Pyruvate Kinase Deficiency (PKLR Exon 7, Pug Variant)
Pyruvate Kinase Deficiency (PKLR Exon 7, Beagle Variant)
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Pyruvate Kinase Deficiency (PKLR Exon 10, Terrier Variant)
Identified in Cairn Terriers and West Highland White Terriers
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Trapped Neutrophil Syndrome, TNS (VPS13B)
Identified in Border Collies, English Shepherds, and more
Ligneous Membranitis, LM (PLG)
Identified in Scottish Terriers
Platelet Factor X Receptor Deficiency, Scott Syndrome (TMEM16F)
Identified in Berger Blanc Suisse, Czechoslovakian Vlcaks, and more
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Congenital Hypothyroidism (TPO, Tenterfield Terrier Variant)
Identified in Tenterfield Terriers
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Congenital Hypothyroidism (TPO, Rat, Toy, Hairless Terrier Variant)
Identified in American Hairless Terriers, Wire Fox Terriers, and more
Complement 3 Deficiency, C3 Deficiency (C3)
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Severe Combined Immunodeficiency, SCID (PRKDC, Terrier Variant)
Identified in Jack Russell Terriers, Parson Russell Terriers, and more
Severe Combined Immunodeficiency, SCID (RAG1, Wetterhoun Variant)
X-linked Severe Combined Immunodeficiency, X-SCID (IL2RG Exon 1, Basset Hound Variant)
X-linked Severe Combined Immunodeficiency, X-SCID (IL2RG, Corgi Variant)
Identified in Cardigan Welsh Corgis and Pembroke Welsh Corgis
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Progressive Retinal Atrophy, rcd1 (PDE6B Exon 21, Irish Setter Variant)
Identified in Irish Red and White Setters and Irish Setters
Progressive Retinal Atrophy, rcd3 (PDE6A)
Identified in Cardigan Welsh Corgis, Chinese Cresteds, and more
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Progressive Retinal Atrophy, CNGA (CNGA1 Exon 9)
Identified in Shetland Sheepdogs
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Progressive Retinal Atrophy, PRA1 (CNGB1)
Progressive Retinal Atrophy (SAG)
Golden Retriever Progressive Retinal Atrophy 1, GR-PRA1 (SLC4A3)
Identified in Golden Retrievers and Lhasa Apsos
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Golden Retriever Progressive Retinal Atrophy 2, GR-PRA2 (TTC8)
Identified in English Labrador Retrievers, Golden Retrievers, and more
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Progressive Retinal Atrophy, crd1 (PDE6B, American Staffordshire Terrier Variant)
Identified in American Bullies, American Pit Bull Terriers, and more
Progressive Retinal Atrophy, crd4/cord1 (RPGRIP1)
Identified in Beagles, Boykin Spaniels, and more
X-Linked Progressive Retinal Atrophy 1, XL-PRA1 (RPGR)
Identified in Samoyeds, Siberian Huskies, and more
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Progressive Retinal Atrophy, PRA3 (FAM161A)
Identified in Tibetan Spaniels and Tibetan Terriers
Identified in Australian Cattle Dogs, Australian Shepherds, and more
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Day Blindness (CNGB3 Exon 6, German Shorthaired Pointer Variant)
Identified in German Shorthaired Pointers and Pointers
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Day Blindness (CNGA3 Exon 7, German Shepherd Variant)
Identified in Berger Blanc Suisse, Czechoslovakian Vlcaks, and more
Day Blindness (CNGA3 Exon 7, Labrador Retriever Variant)
Identified in English Labrador Retrievers and Labrador Retrievers
Autosomal Dominant Progressive Retinal Atrophy (RHO)
Identified in Bullmastiffs and Mastiffs
Canine Multifocal Retinopathy, cmr1 (BEST1 Exon 2)
Identified in American Bullies, Australian Shepherds, and more
Canine Multifocal Retinopathy, cmr2 (BEST1 Exon 5, Coton de Tulear Variant)
Identified in Coton de Tulears
Identified in Finnish Lapphunds, Lapponian Herders, and more
Primary Open Angle Glaucoma (ADAMTS10 Exon 9, Norwegian Elkhound Variant)
Identified in Norwegian Elkhounds
Primary Open Angle Glaucoma (ADAMTS10 Exon 17, Beagle Variant)
Primary Open Angle Glaucoma (ADAMTS17 Exon 11, Basset Fauve de Bretagne Variant)
Identified in Basset Fauve de Bretagnes
Primary Open Angle Glaucoma and Primary Lens Luxation (ADAMTS17 Exon 2, Chinese Shar-Pei Variant)
Identified in Chinese Shar-Peis
Goniodysgenesis and Glaucoma, Pectinate Ligament Dysplasia, PLD (OLFM3)
Hereditary Cataracts (HSF4 Exon 9, Australian Shepherd Variant)
Identified in Australian Shepherds, Australian Shepherds, and more
Primary Lens Luxation (ADAMTS17)
Identified in American Eskimo Dogs, American Hairless Terriers, and more
Congenital Stationary Night Blindness (RPE65, Briard Variant)
Congenital Stationary Night Blindness (LRIT3, Beagle Variant)
Macular Corneal Dystrophy, MCD (CHST6)
Identified in English Labrador Retrievers and Labrador Retrievers
2-DHA Kidney & Bladder Stones (APRT)
Identified in American Indian Dogs
Cystinuria Type I-A (SLC3A1, Newfoundland Variant)
Identified in Landseers and Newfoundlands
Cystinuria Type II-A (SLC3A1, Australian Cattle Dog Variant)
Identified in Australian Cattle Dogs, Australian Kelpies, and more
Cystinuria Type II-B (SLC7A9, Miniature Pinscher Variant)
Identified in Miniature Pinschers
Urate Kidney & Bladder Stones (SLC2A9)
Identified in American Bullies, American Pit Bull Terriers, and more
Polycystic Kidney Disease, PKD (PKD1)
Identified in Coton de Tulears
Protein Losing Nephropathy, PLN (NPHS1)
Identified in Airedale Terriers and Soft Coated Wheaten Terriers
X-Linked Hereditary Nephropathy, XLHN (COL4A5 Exon 35, Samoyed Variant 2)
Identified in Samoyeds and Samoyeds
Familial Nephropathy (COL4A4 Exon 3, Cocker Spaniel Variant)
Identified in Cocker Spaniels, English Cocker Spaniels, and more
Primary Ciliary Dyskinesia, PCD (CCDC39 Exon 3, Old English Sheepdog Variant)
Identified in Old English Sheepdogs
Primary Ciliary Dyskinesia, PCD (NME5, Alaskan Malamute Variant)
Identified in Alaskan Malamutes
Dry Eye Curly Coat Syndrome (FAM83H Exon 5)
Identified in Cavalier King Charles Spaniels and English Toy Spaniels
Anhidrotic Ectodermal Dysplasia (EDA Intron 8)
Identified in Berger Blanc Suisse, Czechoslovakian Vlcaks, and more
Renal Cystadenocarcinoma and Nodular Dermatofibrosis (FLCN Exon 7)
Identified in Berger Blanc Suisse, Czechoslovakian Vlcaks, and more
Identified in English Springer Spaniels
Pompe's Disease (GAA, Finnish and Swedish Lapphund, Lapponian Herder Variant)
Identified in Finnish Lapphunds, Lapponian Herders, and more
Glycogen Storage Disease Type IA, Von Gierke Disease, GSD IA (G6PC, Maltese Variant)
Glycogen Storage Disease Type IIIA, GSD IIIA (AGL, Curly Coated Retriever Variant)
Identified in Curly-Coated Retrievers
Identified in Dachshunds, Dachshunds, and more
Identified in New Zealand Huntaways
Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 5, Terrier Brasileiro Variant)
Identified in Terrier Brasileiros
Mucopolysaccharidosis Type VII, Sly Syndrome, MPS VII (GUSB Exon 3, German Shepherd Variant)
Identified in Belgian Laekenois, Belgian Malinois, and more
Identified in Boykin Spaniels, Cocker Spaniels, and more
Identified in Deutscher Wachtelhunds
Lagotto Storage Disease (ATG4D)
Identified in Lagotto Romagnolos
Neuronal Ceroid Lipofuscinosis 1, NCL 1 (PPT1 Exon 8, Dachshund Variant 1)
Identified in Dachshunds, Dachshunds, and more
Neuronal Ceroid Lipofuscinosis 2, NCL 2 (TPP1 Exon 4, Dachshund Variant 2)
Identified in Dachshunds, Dachshunds, and more
Identified in American Bullies, American Pit Bull Terriers, and more
Neuronal Ceroid Lipofuscinosis 5, NCL 5 (CLN5 Exon 4 SNP, Border Collie Variant)
Identified in Australian Cattle Dogs, Border Collies, and more
Neuronal Ceroid Lipofuscinosis 6, NCL 6 (CLN6 Exon 7, Australian Shepherd Variant)
Identified in Australian Shepherds, Australian Shepherds, and more
Neuronal Ceroid Lipofuscinosis 8, NCL 8 (CLN8 Exon 2, English Setter Variant)
Identified in English Setters, Gordon Setters, and more
Neuronal Ceroid Lipofuscinosis 7, NCL 7 (MFSD8, Chihuahua and Chinese Crested Variant)
Identified in Chihuahuas and Chinese Cresteds
Neuronal Ceroid Lipofuscinosis 8, NCL 8 (CLN8, Australian Shepherd Variant)
Identified in Australian Cattle Dogs, Australian Shepherds, and more
Neuronal Ceroid Lipofuscinosis 10, NCL 10 (CTSD Exon 5, American Bulldog Variant)
Identified in American Bullies, Alapaha Blue Blood Bulldogs, and more
Neuronal Ceroid Lipofuscinosis 5, NCL 5 (CLN5 Exon 4 Deletion, Golden Retriever Variant)
Identified in Golden Retrievers
Adult-Onset Neuronal Ceroid Lipofuscinosis, NCL A, NCL 12 (ATP13A2, Tibetan Terrier Variant)
Identified in Tibetan Terriers
Late-Onset Neuronal Ceroid Lipofuscinosis, NCL 12 (ATP13A2, Australian Cattle Dog Variant)
Identified in Australian Cattle Dogs, Australian Kelpies, and more
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GM1 Gangliosidosis (GLB1 Exon 15, Shiba Inu Variant)
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GM1 Gangliosidosis (GLB1 Exon 15, Alaskan Husky Variant)
Identified in Siberian Huskies
GM1 Gangliosidosis (GLB1 Exon 2, Portuguese Water Dog Variant)
Identified in Portuguese Water Dogs
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GM2 Gangliosidosis (HEXA, Japanese Chin Variant)
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Globoid Cell Leukodystrophy, Krabbe disease (GALC Exon 5, Terrier Variant)
Identified in Cairn Terriers and West Highland White Terriers
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Enamel Hypoplasia (ENAM Deletion, Italian Greyhound Variant)
Identified in Italian Greyhounds
Enamel Hypoplasia (ENAM SNP, Parson Russell Terrier Variant)
Identified in Parson Russell Terriers and Russell-type Terriers
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Persistent Mullerian Duct Syndrome, PMDS (AMHR2)
Identified in Miniature Schnauzers and Standard Schnauzers
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Deafness and Vestibular Syndrome of Dobermans, DVDob, DINGS (MYO7A)
Identified in Doberman Pinschers
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Shar-Pei Autoinflammatory Disease, SPAID, Shar-Pei Fever (MTBP)
Identified in Chinese Shar-Peis
Neonatal Interstitial Lung Disease (LAMP3)
Identified in Airedale Terriers
Alaskan Husky Encephalopathy (SLC19A3)
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Identified in English Labrador Retrievers and Labrador Retrievers
Neonatal Cerebellar Cortical Degeneration (SPTBN2, Beagle Variant)
Early Onset Cerebellar Ataxia (SEL1L, Finnish Hound Variant)
Identified in Finnish Hounds and Norrbottenspitzes
Cerebellar Hypoplasia (VLDLR, Eurasier Variant)
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Late Onset Spinocerebellar Ataxia (CAPN1)
Identified in Jack Russell Terriers, Parson Russell Terriers, and more
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Spinocerebellar Ataxia with Myokymia and/or Seizures (KCNJ10)
Identified in Basenjis, Chihuahuas, and more
Hereditary Ataxia, Cerebellar Degeneration (RAB24, Old English Sheepdog and Gordon Setter Variant)
Identified in Gordon Setters and Old English Sheepdogs
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Identified in Lagotto Romagnolos
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Fetal-Onset Neonatal Neuroaxonal Dystrophy (MFN2, Giant Schnauzer Variant)
Identified in Giant Schnauzers
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Hypomyelination and Tremors (FNIP2, Weimaraner Variant)
Shaking Puppy Syndrome (PLP1, English Springer Spaniel Variant)
Identified in English Springer Spaniels
Neuroaxonal Dystrophy, NAD (TECPR2, Spanish Water Dog Variant)
Identified in Spanish Water Dogs
Neuroaxonal Dystrophy, NAD (VPS11, Rottweiler Variant)
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L-2-Hydroxyglutaricaciduria, L2HGA (L2HGDH, Staffordshire Bull Terrier Variant)
Identified in American Bullies, American Pit Bull Terriers, and more
Alaskan Malamute Polyneuropathy, AMPN (NDRG1 SNP)
Identified in Alaskan Malamutes
Narcolepsy (HCRTR2 Intron 6, Labrador Retriever Variant)
Identified in English Labrador Retrievers and Labrador Retrievers
Narcolepsy (HCRTR2 Exon 1, Dachshund Variant)
Identified in Dachshunds, Dachshunds, and more
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Canine Multiple System Degeneration (SERAC1 Exon 15, Kerry Blue Terrier Variant)
Identified in Kerry Blue Terriers
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Canine Multiple System Degeneration (SERAC1 Exon 4, Chinese Crested Variant)
Identified in Chinese Cresteds
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Juvenile Laryngeal Paralysis and Polyneuropathy (RAB3GAP1, Rottweiler Variant)
Identified in Black Russian Terriers and Rottweilers
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Acral Mutilation Syndrome (GDNF-AS, Spaniel and Pointer Variant)
Identified in Cocker Spaniels, English Cocker Spaniels, and more
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Sensory Neuropathy (FAM134B, Border Collie Variant)
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Leonberger Polyneuropathy 1 (LPN1, ARHGEF10)
Identified in Leonbergers and Saint Bernards
Juvenile Myoclonic Epilepsy (DIRAS1)
Identified in Rhodesian Ridgebacks
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Leonberger Polyneuropathy 2 (GJA9)
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Spongy Degeneration with Cerebellar Ataxia 1 (KCNJ10)
Identified in Belgian Laekenois, Belgian Malinois, and more
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Spongy Degeneration with Cerebellar Ataxia 2 (ATP1B2)
Identified in Belgian Laekenois, Belgian Malinois, and more
Dilated Cardiomyopathy, DCM1 (PDK4, Doberman Pinscher Variant 1)
Identified in Doberman Pinschers
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Dilated Cardiomyopathy, DCM2 (TTN, Doberman Pinscher Variant 2)
Identified in Doberman Pinschers
Identified in English Springer Spaniels
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Cardiomyopathy and Juvenile Mortality (YARS2)
Identified in Belgian Laekenois, Belgian Malinois, and more
Muscular Dystrophy (DMD, Cavalier King Charles Spaniel Variant 1)
Identified in Cavalier King Charles Spaniels and English Toy Spaniels
Muscular Dystrophy (DMD, Golden Retriever Variant)
Identified in Golden Retrievers
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Limb Girdle Muscular Dystrophy (SGCD, Boston Terrier Variant)
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Ullrich-like Congenital Muscular Dystrophy (COL6A3 Exon 10, Labrador Retriever Variant)
Identified in English Labrador Retrievers and Labrador Retrievers
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Centronuclear Myopathy, CNM (PTPLA)
Identified in English Labrador Retrievers and Labrador Retrievers
Exercise-Induced Collapse, EIC (DNM1)
Identified in Bouvier des Flandress, Boykin Spaniels, and more
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Inherited Myopathy of Great Danes (BIN1)
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Myotonia Congenita (CLCN1 Exon 7, Miniature Schnauzer Variant)
Identified in Miniature Schnauzers and Standard Schnauzers
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Myotonia Congenita (CLCN1 Exon 23, Australian Cattle Dog Variant)
Identified in Australian Cattle Dogs, Border Collies, and more
X-Linked Myotubular Myopathy (MTM1, Labrador Retriever Variant)
Identified in English Labrador Retrievers and Labrador Retrievers
Inflammatory Myopathy (SLC25A12)
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Hypocatalasia, Acatalasemia (CAT)
Pyruvate Dehydrogenase Deficiency (PDP1, Spaniel Variant)
Identified in Clumber Spaniels and Sussex Spaniels
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Identified in Greyhounds and Hungarian Greyhounds
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Cobalamin Malabsorption (CUBN Exon 53, Border Collie Variant)
Identified in Border Collies and Australian Kelpies
Cobalamin Malabsorption (CUBN Exon 8, Beagle Variant)
Inherited Selected Cobalamin Malabsorption with Proteinuria (CUBN, Komondor Variant)
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Identified in Norwegian Lundehunds
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Congenital Myasthenic Syndrome, CMS (CHAT, Old Danish Pointing Dog Variant)
Identified in Old Danish Pointing Dogs
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Congenital Myasthenic Syndrome, CMS (COLQ, Labrador Retriever Variant)
Identified in English Labrador Retrievers and Labrador Retrievers
Congenital Myasthenic Syndrome, CMS (CHRNE, Jack Russell Terrier Variant)
Identified in Russell Terriers, Russell-type Terriers, and more
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Congenital Myasthenic Syndrome, CMS (COLQ, Golden Retriever Variant)
Identified in Golden Retrievers
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Myasthenia Gravis-Like Syndrome (CHRNE, Heideterrier Variant)
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Episodic Falling Syndrome (BCAN)
Identified in Cavalier King Charles Spaniels and English Toy Spaniels
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Paroxysmal Dyskinesia, PxD (PIGN)
Identified in Soft Coated Wheaten Terriers
Demyelinating Polyneuropathy (SBF2/MTRM13)
Identified in Miniature Schnauzers
Dystrophic Epidermolysis Bullosa (COL7A1, Golden Retriever Variant)
Identified in Golden Retrievers
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Dystrophic Epidermolysis Bullosa (COL7A1, Central Asian Shepherd Dog Variant)
Identified in Central Asian Shepherd Dogs
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Skin Fragility Syndrome (PKP1, Chesapeake Bay Retriever Variant)
Identified in Chesapeake Bay Retrievers
Ichthyosis, Epidermolytic Hyperkeratosis (KRT10, Terrier Variant)
Identified in Norfolk Terriers and Lucas Terriers
Ichthyosis, ICH1 (PNPLA1, Golden Retriever Variant)
Identified in Golden Retrievers
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Ichthyosis (SLC27A4, Great Dane Variant)
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Ichthyosis (NIPAL4, American Bulldog Variant)
Identified in American Bullies, Alapaha Blue Blood Bulldogs, and more
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Hereditary Footpad Hyperkeratosis (FAM83G, Terrier and Kromfohrlander Variant)
Identified in Bedlington Terriers, Irish Terriers, and more
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Hereditary Footpad Hyperkeratosis (DSG1, Rottweiler Variant)
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Hereditary Nasal Parakeratosis, HNPK (SUV39H2)
Identified in English Labrador Retrievers and Labrador Retrievers
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Musladin-Lueke Syndrome, MLS (ADAMTSL2)
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Oculocutaneous Albinism, OCA (SLC45A2, Pekingese Variant)
Identified in Lhasa Apsos, Pekingese, and more
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Lethal Acrodermatitis, LAD (MKLN1)
Identified in Bull Terriers and Miniature Bull Terriers
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Ehlers Danlos (ADAMTS2, Doberman Pinscher Variant)
Identified in Doberman Pinschers
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Cleft Lip and/or Cleft Palate (ADAMTS20, Nova Scotia Duck Tolling Retriever Variant)
Identified in Nova Scotia Duck Tolling Retrievers
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Hereditary Vitamin D-Resistant Rickets (VDR)
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Osteogenesis Imperfecta (COL1A2, Beagle Variant)
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Osteogenesis Imperfecta (SERPINH1, Dachshund Variant)
Identified in Dachshunds, Dachshunds, and more
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Osteogenesis Imperfecta (COL1A1, Golden Retriever Variant)
Identified in Golden Retrievers
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Skeletal Dysplasia 2, SD2 (COL11A2, Labrador Retriever Variant)
Identified in English Labrador Retrievers and Labrador Retrievers
Craniomandibular Osteopathy, CMO (SLC37A2)
Identified in Australian Shepherds, Australian Shepherds, and more
Chondrodystrophy (ITGA10, Norwegian Elkhound and Karelian Bear Dog Variant)
Identified in Norwegian Elkhounds, Karelian Bear Dogs, and more