Skeletal dysplasia 3 / SD3 (PCYT1A-related) - Vizsla

What does this test examine?

This genetic test analyses the PCYT1A variant c.673T>C in the Vizsla. The condition is known as skeletal dysplasia 3, SD3, disproportionate dwarfism and a chondrodysplasia-like dwarfism syndrome.

What does skeletal dysplasia 3 mean?

SD3 disrupts normal skeletal development. Affected puppies develop short, bowed limbs, altered body proportions and movement problems. Signs can become visible early in life and directly affect welfare, mobility and breeding suitability.

Inheritance and result

The trait is autosomal recessive. Clear dogs do not carry the tested variant, carriers have one copy and affected dogs have two copies. Carriers are usually clinically normal but can pass the variant to offspring.

Practical value of this test

• Breeders can identify carriers before mating and avoid affected puppies.
• The result supports targeted selection without unnecessarily excluding valuable lines.
• In puppies with short or abnormal limbs, the test gives quick genetic clarity for this specific SD3 variant.