Turnaround time
10 workdays
48.4
40
Genetic test for the SLC4A3 variant c.2601_2602insC causing Golden Retriever PRA1 in the Golden Retriever.
Overview
This genetic test analyses the SLC4A3 variant c.2601_2602insC in the Golden Retriever. The condition is known as Golden Retriever PRA1 / GR-PRA1 / PRA-SLC4A3 / progressive retinal atrophy. The result shows whether the dog carries zero, one or two copies of the tested variant.
Progressive retinal atrophy (PRA) is a group of inherited retinal diseases in which photoreceptor cells gradually lose function. In this test, the relevant cause is in the SLC4A3 gene, allowing a specific breed-related PRA risk to be identified.
GR-PRA1 is an inherited retinal degeneration in the Golden Retriever. Clinical signs include night blindness and loss of peripheral vision, after which the disease can progress to more severe visual impairment.
Early signs can be subtle: reduced vision in dim light, hesitancy in unfamiliar spaces, difficulty avoiding obstacles and later loss of day vision. DNA testing identifies the inherited status before visible signs appear or before a breeding combination is chosen.
The trait is autosomal recessive. The result gives a lifelong genetic status for the tested variant.
For Golden Retriever breeders, this test is practical because carriers can look healthy while two carriers can produce affected puppies. The result supports informed mate selection and active management of GR-PRA1 in lines.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Below, for each tested locus, you will find the possible allele combinations that may be reported within this analysis, together with a brief explanation of their genetic meaning. The interpretation of possible interactions between different loci is included in the report, but is not shown here in full because that would lead to too many combinations on this page. The final expression may also depend on other genes and their interaction.
Genotype / allele combination: Clear (N/N)
The dog has genotype N/N. The tested variant was not detected and this dog will not pass it on.
Genotype / allele combination: Carrier (N/insC)
The dog has genotype N/insC. The dog carries one copy of the tested variant, is usually not affected, and can pass the variant to offspring.
Genotype / allele combination: Affected genotype (insC/insC)
The dog has genotype insC/insC. Two copies of the tested variant cause this autosomal recessive form of PRA in the relevant breed.
Sampling and submission guidelines





References