Progressive retinal atrophy (Type B1-PRA, HIVEP3)
Progressive retinal atrophy (Type B1-PRA, HIVEP3)
General description
According to the latest scientific research, a mutation in the HIVEP3 gene is responsible for the early form of type B PRA in miniature schnauzers. The previously offered type B PRA test via Optigen (now called GeneSeek) has examined a genetic variant in the PPT1 gene that showed variations in genotype and phenotype. The newly discovered HIVEP3 variant shows a better correlation, which is why we recommend the newer test according to Kaukonen et. al.
Breeds
Miniature Schnauzer
Order details
| Test number | 8546 |
| Abbreviation | Typ B1-PRA HIVEP3 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | HIVEP3 |
| Mutation | G-A |
| Literature | OMIA:001311-9615 |
Detailed description
Progressive retinal atrophy (PRA) is a progressive disease of the retina. The photoreceptors of the eye are destroyed over time. This leads to increasing night blindness and loss of vision adaptation. According to the latest scientific research, a mutation in the HIVEP3 gene is responsible for the early form of type B PRA in miniature schnauzers. The previously offered type B PRA test via Optigen (now called GeneSeek) has examined a genetic variant in the PPT1 gene that showed variations in genotype and phenotype. The newly discovered HIVEP3 variant shows a better correlation, which is why we recommend the newer test according to Kaukonen et. al.
