Ichthyosis type 1 & 2 (PNPLA1/ABHD5-related) - Golden Retriever

What does this test examine?

This genetic analysis combines two Golden Retriever ichthyosis tests: PNPLA1 c.1445_1447delinsTACTACTA for Ichthyosis type 1 / ICH1 and ABHD5 c.1006_1019del for Ichthyosis type 2 / ICH2. The disorder is also known as congenital ichthyosis, Golden Retriever ichthyosis, ARCI and an inherited cornification disorder.

What does it mean for the dog?

Ichthyosis disrupts formation of the outer skin layer. In Golden Retrievers, dry scales can become visible in the coat and skin, sometimes with a dirty or powdery appearance, darker scale colour and more adherent scaling around the abdomen, ears or trunk. Type 1 is the classic PNPLA1-related form; type 2 is ABHD5-related and has been described as sometimes more adherent or more obvious. Both variants are autosomal recessive.

Practical value of this test

• Breeders get one analysis covering two known Golden Retriever ichthyosis variants.
• The result helps pair carriers with clear partners and avoid carrier-to-carrier matings.
• In young dogs with scaling, the test helps distinguish PNPLA1 type 1, ABHD5 type 2 and other skin factors.
• For owners, the result gives useful information for skin care, follow-up and communication with breeder or veterinarian.

For both subanalyses, one copy makes the dog a carrier and two copies cause the tested Golden Retriever form of ichthyosis. Read the two subresults together, because a dog may be clear for one type and carrier or affected for the other.