Combination Samoyed

General description

includes: Amelogenesis imperfecta (Familial enamel hypoplasia) (FEH), Familial nephropathy (FN), Progressive retinal atrophy (XL-PRA)

Breeds

Samoyed

Order details
Test number8928
AbbreviationXL-PRA
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexophthalmic
Age of onset3-5 years
Causalitycausally
GeneRPGR
MutationDEL
LiteratureOMIA:000831-9615
Detailed description

The following tests are included in this combination: Amelogenesis imperfecta (Familial enamel hypoplasia) (FEH), Familial nephropathy (FN), Progressive retinal atrophy (XL-PRA)