Progressive Retinaatrophie (Typ 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.\nAccording 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. \nThe newly discovered HIVEP3 variant shows a better correlation, which is why we recommend the newer test according to Kaukonen et. al. \n
