Turnaround time
10 workdays
48.4
40
Genetic test for the RPGRIP1 c.142_143ins variant, the main tested factor for crd4-PRA / cord1.
Overview
This genetic test analyses the RPGRIP1 c.142_143ins variant in the Dachshund and English Springer Spaniel. The condition is known as progressive retinal atrophy / crd4-PRA / cord1 and is also referred to as cord1, crd4, PRA-crd4, RPGRIP1-CRD and cone-rod dystrophy type 4. The result shows whether the dog carries zero, one or two copies of the tested variant.
The RPGRIP1 gene is involved in normal photoreceptor function in the retina. The tested variant is an important genetic factor for this form of inherited retinal degeneration and can lead to progressive loss of vision.
This form has variable age of onset and severity. The RPGRIP1 variant is important, but MAP9 status and other modifiers can determine whether problems appear early or later in life.
In progressive retinal atrophy and cone-rod dystrophy, the light-sensitive cells of the retina gradually lose function. Dogs may develop difficulty seeing in dim or bright light, problems tracking moving objects, clumsiness and, over time, severe visual impairment or blindness.
The trait follows autosomal recessive inheritance. A clear dog does not carry the variant. A carrier has one copy and is usually not affected, but can pass the variant on. A dog with two copies has the affected genotype.
For breeders, this test is valuable because carriers can look completely normal. The result makes it possible to plan matings, manage carriers responsibly and greatly reduce the risk of puppies with inherited retinal degeneration.
This single RPGRIP1 test is useful when screening the main crd4-PRA/cord1 variant. For the fullest risk assessment, additional MAP9 interpretation can be important.
Included subanalyses
This analysis includes the following subanalysis:
Allele combinations & result interpretations
Sampling and submission guidelines
References
