Labrador Retriever Genetic Pack

Tests included in this pack (10)

• Exercise-induced collapse (EIC)
• Hereditary Myopathy (CNM) Labrador Retriever, Great Dane, German Terrier
• Skeletal dysplasia 2 (dwarfism) (SD2)
• Stargardt disease (STGD, Retinal degeneration)
• Canine Degenerative Myelopathy exon 2 (all breeds)
• PK Pyruvate kinase deficiency in dogs
• Hyperuricosuria (SLC)
• Progressive Retinal Atrophy GTPBP2, Labrador Retriever
• Retinal dysplasia (OSD)
• Hereditary nasal parakeratosis (HNPK)

Each test includes the complete analysis and the detailed report. Click on the test to view its information sheet.

Diseases included in this pack

Exercise-Induced Collapse (EIC) (Autosomal recessive (OMIA:001466-9615).)

Exercise-Induced Collapse (EIC) is an inherited neuromuscular disease that mainly affects the Labrador Retriever and other retriever breeds. It is characterised by episodes of muscle weakness and collapse that occur during or immediately after intense exercise and subside within a few minutes, with the dog normal be…

Retinal Dysplasia (OSD) (Autosomal recessive (OMIA:001522-9615).)

Oculoskeletal dysplasia (OSD, drd1) of the Labrador retriever, combining disproportionate short-limb dwarfism (especially forearms) with vitreous and retinal dysplasia progressing to retinal detachment and cataracts. It is recessively inherited and due to mutations in COL9A3. Heterozygous carriers may show mild ocul…

Progressive Retinal Atrophy GTPBP2, Labrador Retriever (Autosomal recessive (OMIA:002926-9615).)

A form of progressive retinal atrophy of the Labrador retriever caused by an in-frame deletion in the GTPBP2 gene. It produces progressive degeneration of photoreceptors and gradual painless vision loss, and is distinguished from PRCD-PRA in the same breed by its molecular basis. It progresses to blindness.

Hyperuricosuria (SLC) (Autosomal recessive)

Hyperuricosuria is a defect of renal uric acid transport caused by a variant of the SLC2A9 gene, historically described as G616T (p.Cys188Phe) and also noted as Cys181Phe depending on the reference transcript. It increases urinary urate excretion and the risk of urate uroliths. The Dalmatian is the paradigmatic breed.

PK Pyruvate Kinase Deficiency in Dogs (Autosomal recessive (OMIA:000844-9615).)

Molecular test for pyruvate kinase deficiency (PK Def), an autosomal recessive hereditary erythroenzymopathy caused by PK deficiency in the erythrocyte. Red blood cell half-life is shortened and it produces chronic regenerative hemolytic anemia, intermittent weakness, hepatosplenomegaly in the first year and, in adv…

Canine Degenerative Myelopathy exon 2 (All Breeds) (Autosomal recessive with age-dependent and incomplete penetrance)

Neurodegenerative disease of the spinal cord, the canine equivalent of human amyotrophic lateral sclerosis (ALS) due to SOD1 mutations. The classic variant (exon 2 of the SOD1 gene, described in 'all breeds') produces a dysfunctional superoxide dismutase 1 and degeneration of the long spinal tracts, with progressive…

Stargardt Disease (STGD, Retinal Degeneration) (Autosomal recessive (OMIA:002179-9615).)

Juvenile-onset inherited retinopathy of the Labrador Retriever phenotypically close to human Stargardt disease: progressive cone-rod degeneration that begins in the central area (fovea equivalent) and later extends to the visual streak and the peripheral retina, with slow visual deterioration. It is caused by a loss…

Skeletal Dysplasia 2 (Dwarfism) (SD2) (Autosomal recessive with incomplete penetrance (OMIA:001772-9615).)

Mild form of disproportionate dwarfism in the Labrador Retriever with short limbs (mainly the forelimbs) and a body of normal length and width, with no ocular or auditory involvement. Height at the withers is reduced by around 6 cm compared with the standard, and the disease is not associated with significant second…

Hereditary Myopathy (CNM) Labrador Retriever, Great Dane, German Terrier (Autosomal recessive.)

Centronuclear myopathy (CNM) of the Labrador Retriever: congenital myopathy due to an exonic SINE insertion in the PTPLA gene (now HACD1), which alters splicing and produces progressive muscle weakness from the first months of life, with exercise intolerance, abnormal postures and muscle atrophy. It is inherited in…

Hereditary Nasal Parakeratosis (HNPK) (Autosomal recessive (OMIA:001373-9615).)

Molecular test for hereditary nasal parakeratosis (HNPK), a monogenic autosomal recessive dermatosis of the Labrador retriever that produces crusts and fissures on the nasal planum from an early age. It affects the skin of the muzzle and compromises welfare through discomfort, fissuring and risk of secondary infecti…

Frequently asked questions

What does this pack include?

It includes 10 hereditary disease tests: Exercise-Induced Collapse (EIC), Retinal Dysplasia (OSD), Progressive Retinal Atrophy GTPBP2, Labrador Retriever, Hyperuricosuria (SLC)…. All are analysed in our laboratory.

What do the results mean?

The report shows the genotype and inheritance pattern of each variant. It is a breeding-decision tool: it guides which crosses to avoid, it does not guarantee the absence of disease.

How is the sample taken?

Buccal swab or 0.5–1 ml EDTA blood. The kit ships free to Spain, the EU and the UK.