What genetic conditions and traits does Basepaws test for in dogs?Updated 20 days ago
The following is a list of genetic conditions and traits that we test for in dogs.
Genetic Conditions
Cardiac
Dilated cardiomyopathy, RBM20-related
Dilated cardiomyopathy, TTN-related
Cardiomyopathy, YARS2-related
Ventricular arrhythmias and sudden death
Dermatologic
Ichthyosis, PNPLA1-related
Ichthyosis, SLC27A4-related
Dystrophic epidermolysis bullosa
Hyperkeratosis, DSG1-related
Hyperkeratosis, FAM83G-related
Hyperkeratosis, KRT10-related
X-linked hypohidrotic ectodermal dysplasia (XHED)
Junctional epidermolysis bullosa, LAMA3-related
Junctional epidermolysis bullosa, LAMB3-related
Lethal acrodermatitis
Inflammatory linear verrucous epidermal nevi (ILVEN)
Epidermolysis bullosa simplex (EBS)
Hypotrichosis
Nasal parakeratosis
Endocrine
Dwarfism, GH1-related
Dwarfism, LHX3-related
Disproportionate dwarfism
Congenital Hypothyroidism, SLC5A5-related
Congenital hypothyroidism, TPO-related
Gastrointestinal
Imerslund-Gräsbeck syndrome, CUBN-related
Familial Adenomatous Polyposis
Gastrointestinal stromal tumor predisposition
Lundehund syndrome
Hematologic
Canine Scott syndrome (CSS)
Methemoglobinaemia
Factor XI deficiency
Factor VII deficiency
Haemophilia A
Haemophilia B
Thrombasthenia
Polycythemia
Prekallikrein deficiency
May-Hegglin anomaly
Bleeding disorder, P2RY12-related
Ligneous membranitis
Thrombopathia
Elliptocytosis
Thrombocytopaenia
Von Willebrand disease I
Von Willebrand disease II
Von Willebrand disease III
Immune
C3 deficiency
Leukodystrophy, TSEN54-related
Leukocyte adhesion deficiency, type III
Leukocyte adhesion deficiency, type I
Severe combined immunodeficiency disease, X-linked
Severe combined immunodeficiency disease, DNA-PKcs-related
Severe combined immunodeficiency disease, RAG1-related
Trapped Neutrophil Syndrome
Metabolic
Exercise induced metabolic myopathy
Glycogen storage disease, type IIIA
Glycogen storage disease, type II
Glycogen storage disease, type VII
Succinic semialdehyde dehydrogenase deficiency
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
Mucopolysaccharidosis IIIA
Neuronal ceroid lipofuscinosis, ARSG-related
Neuronal ceroid lipofuscinosis, ATP13A2-related
Neuronal ceroid lipofuscinosis, CLN5-related
Neuronal ceroid lipofuscinosis, CLN6-related
Neuronal ceroid lipofuscinosis, CLN8-related
Neuronal ceroid lipofuscinosis, CTSD-related
Neuronal ceroid lipofuscinosis, MFSD8-related
Neuronal ceroid lipofuscinosis, PPT1-related
Neuronal ceroid lipofuscinosis, TPP1-related
Menkes disease
Wilson's disease, ATP7B-related
Hypocatalasia (Acatalasemia)
Ciliary dyskinesia, CCDC39-related
Ciliary dyskinesia, NME5-related
Gangliosidosis, GM1
Gangliosidosis, GM2, type I
Gangliosidosis, GM2, type II
Beta-mannosidosis
Xanthinuria, type II
Xanthinuria, type I
Pyruvate dehydrogenase deficiency
Erythrocytic pyruvate kinase (PK) deficiency
Glycogen storage disease, type Ia
Musculoskeletal and connective tissue
Ehlers-Danlos syndrome, Dermatosparaxis type
Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, classic-like type
Musladin-Lueke syndrome
Hypophosphatasia
Inherited Myopathy of Great Danes (IMGD)
Centronuclear myopathy
Myotonia
Skeletal dysplasia 2 (SD2)
Osteogenesis imperfecta, COL1A1-related
Osteogenesis imperfecta, COL1A2-related
Osteogenesis imperfecta, SERPINH1-related
Ullrich congenital muscular dystrophy (UCMD)
Muscular dystrophy, COL6A3-related
Duchenne muscular dystrophy
Australian Labradoodle dystrophinopathy
Muscular dystrophy-dystroglycanopathy
Oculoskeletal dysplasia, COL9A3-related
Exercise-induced collapse syndrome (EIC)
Chondrodysplasia, FGF4-related
Chondrodysplasia, ITGA10-related
Spondylocostal dysostosis
Muscular hypertrophy (double muscling)
Myotubular myopathy
Malignant hyperthermia
Limb-girdle muscular dystrophy, type R3
Limb-girdle muscular dystrophy, type 2F
Inflammatory myopathy
Craniomandibular osteopathy
Neurologic
Polyneuropathy, ARHGEF10-related
Polyneuropathy, GJA9-related
Polyneuropathy, NDRG1-related
Polyneuropathy, RAB3GAP1-related
Polyneuropathy, SBF2-related
Neurodegenerative vacuolar storage disease
Spongy degeneration with cerebellar ataxia (SDCA)
Spongy degeneration with cerebellar ataxia 1 (SDCA1)
Spinocerebellar ataxia, CAPN1-related
Spinocerebellar ataxia, KCNJ10-related
Spinocerebellar ataxia, SCN8A-related
Spinocerebellar ataxia, SPTBN2-related
Congenital myasthenic syndrome, CHAT-related
Congenital myasthenic syndrome, CHRNE-related
Congenital myasthenic syndrome, COLQ-related
Laryngeal paralysis and polyneuropathy
Generalized myoclonic epilepsy with photosensitivity
Hypomyelination
Krabbe disease
Acral mutilation syndrome
Alexander disease
Bandera's neonatal ataxia (BNAt)
Cerebellar ataxia, KCNIP4-related
Cerebellar ataxia, RAB24-related
Cerebellar ataxia, SEL1L-related
Narcolepsy
L-2-hydroxyglutaricacidemia
Benign familial juvenile epilepsy (BFJE)
Neurological defects, MYO5A-related
Leukoencephalomyelopathy
Mitochondrial neurodegenerative disease with epileptic encephalopathy
Neuroaxonal dystrophy, PLA2G6-related
Neuroaxonal dystrophy, VPS11-related
Pelizaeus-Merzbacker disease (shaking pup disease)
Multiple system degeneration
Leigh-like subacute necrotizing encephalopathy (SNE)
Degenerative myelopathy
Juvenile-onset neuroaxonal dystrophy, TECPR2-related
Dandy-Walker-like malformation (cerebellar hypoplasia)
neuropathy, sensory, RETREG1(FAM134B)-related
Neonatal encephalopathy with seizures
Ophthalmologic
Stargardt disease 1
Cone-rod dystrophy 2 (crd2)
Cone-rod dystrophy 4 (crd4)
Cone-rod dystrophy 1 (crd1)
Primary open-angle glaucoma (POAG), ADAMTS10-related
Lens luxation
Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both
Multifocal retinopathy 1
Multifocal retinopathy 2
Multifocal retinopathy 3
Progressive retinal atrophy, BBS4-related
Progressive retinal atrophy, CCDC66-related
Progressive retinal atrophy, CNGA1-related
Progressive Retinal Atrophy, CNGB1-related
Progressive Retinal Atrophy, HIVEP3-related
Progressive Retinal Atrophy, IFT122-related
Progressive Retinal Atrophy, NECAP1-related
Progressive retinal atrophy, RHO-related
Progressive retinal atrophy, X-linked, type 1
Progressive retinal atrophy, X-linked, type 2
Progressive Retinal Atrophy, SAG-related
Progressive retinal atrophy, SLC4A3-related
Progressive retinal atrophy, TTC8-related
Achromatopsia, CNGA3-related
Achromatopsia, CNGB3-related
Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID)
Congenital stationary night blindness
X-linked retinal dysplasia
Goniodysgenesis and early-onset glaucoma
Rod-cone dysplasia 3 (rcd3)
Rod-cone dysplasia 1 (rcd1), PDE6B-related
Progressive rod-cone degeneration
Leber congenital amaurosis
Congenital eye malformation
Early retinal degeneration (erd)
Renal/Urinary
Primary hyperoxaluria, type I (Oxalosis I)
2,8-DHA urolithiasis
Urolithiasis, SLC2A9-related
Nephropathy
Nephritis, X-linked
Renal cystadenocarcinoma and nodular dermatofibrosis
Diffuse cystic renal dysplasia and hepatic fibrosis
Polycystic kidney disease
Cystinuria, type IA
Cystinuria, type IIA
Cystinuria, type IIB
Protein-losing nephropathy
Respiratory
Recurrent inflammatory pulmonary disease
Respiratory distress syndrome
Pulmonary surfactant metabolism dysfunction
Other systems
Amelogenesis imperfecta, ENAM-related
Persistent Müllerian duct syndrome
Brachycephaly
Dental hypomineralization
Decreased litter size
Disorder of sexual development, SRY-related
Non-syndromic hearing loss
Deafness, bilateral, and vestibular dysfunction
Deafness, unilateral and vestibular dysfunction
Periodic Fever Syndrome
Multiple drug sensitivity (MDR1)
Traits
Coat Color
Black coat, CBD103-related
Red/yellow coat
White coat
Cream coat
Albinism, SLC45A2-related
Yellow coat
Coat Color Modifiers
Brown coat
Dilute coat, MLPH-related
Dilute coat, MYO5A-related
Dilute red coat
White-spotted coat color, KIT-related
Coat Pattern
Himalayan coat
Wolf-like (Sable) coat
Coat Properties
Curly coat
Long-haired coat
Shedding
Facial Pattern
Grizzle
Melanistic Mask
Tail
Bobtail
Screw tail
Morphology
Larger body size
Smaller body size
Intermediate body size
If you have any questions about the genetic conditions, traits, or specific markers we test for please reach out to us at [email protected].