Progressive retinal atrophy (Type B1-PRA, HIVEP3)
LABOKLIN Service ID: 8546
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.
TaqMan SNP assay
3 - 5 days after arrival of the sample in the lab