Turnaround time
10 workdays
48.4
40
DNA test for GR-PRA2 in dogs; detects the TTC8 c.669delA deletion inherited as an autosomal recessive trait.
Overview
Progressive retinal atrophy, or PRA, is a collective term for inherited retinal disorders that gradually cause loss of vision. This analysis focuses on GR-PRA2, also known as Golden Retriever PRA 2, Golden Retriever progressive retinal atrophy 2 and TTC8-related progressive retinal atrophy.
This form of PRA causes bilateral and progressive retinal degeneration. Clinical signs are often noticed in adulthood and may include reduced vision, uncertainty in dark conditions and eventually severe visual impairment or blindness. Because several genetic forms of PRA can occur in retrievers, variant-specific testing remains important.
This DNA test detects the TTC8 deletion c.669delA. This frameshift variant affects the TTC8 protein, which is involved in normal photoreceptor function in the retina. TTC8 is also referred to as BBS8 in the context of Bardet-Biedl syndrome in humans.
GR-PRA2 is inherited as an autosomal recessive trait. One copy indicates carrier status; two copies are consistent with genetic risk for this specific TTC8-related form of PRA. Because PRA in retrievers can be genetically heterogeneous, this test explains only the tested GR-PRA2 variant.
The result helps breeders identify carriers and avoid risk matings. For veterinarians and owners, the test can provide useful genetic context during eye evaluation, especially when progressive vision loss is present or PRA is relevant within the breeding line.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Sampling and submission guidelines
References
