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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].

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