Turnaround time
10 workdays
48.4
40
DNA test for GTPBP2-PRA in dogs; detects the GTPBP2 c.1607_1609del deletion inherited as an autosomal recessive trait.
Overview
Progressive retinal atrophy, or PRA, is a group of inherited retinal disorders in which vision gradually declines because photoreceptor cells degenerate. This analysis focuses on GTPBP2-PRA, also known as GTPBP2-related progressive retinal atrophy.
This form has been described in Labrador Retrievers and may cause visual problems at a young age. Typical findings fit within PRA: reduced vision, difficulty tracking moving objects or navigating, abnormalities during eye examination and eventually progressive blindness. Clinical eye examination remains important to assess the current ocular status.
This DNA test detects the GTPBP2 deletion c.1607_1609del. The variant is a small deletion in the coding region of the gene and is associated with a non-syndromic form of progressive retinal atrophy in Labrador Retrievers.
GTPBP2-PRA is inherited as an autosomal recessive trait. A dog with one copy is a carrier and is usually clinically clear for this specific form. Two copies are consistent with genetic risk for GTPBP2-related PRA.
The result supports breeding selection, helps identify carriers and can help avoid unintended carrier-to-carrier matings. In young dogs or lines where PRA occurs, the test can add clarity alongside eye examination. A clear result for this variant does not exclude other genetic or non-genetic causes of visual problems.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Sampling and submission guidelines
References
