Ullrich-type muscular dystrophy / COL6A3 panel (COL6A3-related) - Labrador Retriever

What does this test examine?

This genetic test examines the COL6A3 variant c.4726C>T en c.6210+1G>A in the Labrador Retriever. The test is used for Ullrich-type muscular dystrophy / COL6A3-related MD. The condition is also known as Ullrich-like congenital muscular dystrophy, UCMD, sarcolemmal specific collagen VI deficient myopathy and COL6A3-related myopathy.

What does this condition mean?

COL6A3 encodes a component of collagen VI, a protein complex important for strength and support of muscle tissue. In the Labrador Retriever, COL6A3 variants cause Ullrich-type muscular dystrophy with muscle weakness, angular limb deformity, flat-footed overload of the carpal joints, muscle atrophy or progressive movement problems. Because one variant is recessive and the other dominant, a panel containing both subtests is necessary.

Practical value of this test

For Labrador breeders, this panel is more useful than a single variant test: it detects both recessive carrier status and the dominant risk variant. This supports better mating plans and gives clearer genetic classification for dogs with muscle or limb problems.

• Shows clearly whether a dog is clear, carries the tested variant or is genetically affected.
• Supports targeted breeding plans and helps avoid matings with an increased risk of affected puppies.
• Helps breeders manage carriers or positive animals responsibly without unnecessarily losing valuable lines.
• Gives owners and veterinarians concrete genetic information when muscle weakness, delayed growth, abnormal gait or muscle atrophy occurs in a line.

Result and inheritance

This panel includes one autosomal recessive and one autosomal dominant COL6A3 variant. For c.4726C>T, C/C is clear, C/T is carrier and T/T is genetically affected. For c.6210+1G>A, G/G is clear and G/A or A/A is positive for the dominant variant.