Test Detail
Basenji pack: progressive retinal atrophy (Bas-PRA1) + pyruvate kinase deficiency (PK) + Fanconi syndrome
General · Dog
Genetic panel for the Basenji that groups three classic recessive hereditary conditions of the breed: Bas-PRA1 progressive retinal atrophy (adult-onset form of PRA due to SAG), pyruvate kinase deficiency (PK, chronic haemolytic anaemia due to a defect in erythrocyte glycolysis) and Fanconi syndrome (proximal renal tubular dysfunction with glucosuria, aminoaciduria and metabolic acidosis). All three have a well-characterised molecular basis and a specific genetic test.
Incidence
Basenji. PK deficiency and Fanconi syndrome are well characterised in the breed; carrier frequencies by country are not published systematically (limited data). Bas-PRA1 is relatively uncommon but should be screened for.
Breeder management
- Genotype breeding animals for SAG, PKLR and FAN1 before mating\n- Do not cross two carriers for the same variant\n- A carrier may be crossed with a clear animal and offspring intended for breeding must be tested\n- After a confirmed case, do not repeat the parental cross and communicate the status to the buyer\n- Adult-onset Fanconi makes genetic screening the only way to prevent transmission: animals that are clinically healthy at a young age may be carriers or even non-expressing homozygotes
Specialist notes
Bas-PRA1 must be distinguished from other PRAs of the Basenji: there is at least one other form not attributable to SAG. PK deficiency must be distinguished from other haemolytic anaemias (phosphofructokinase, pyrimidine 5'-nucleotidase). Basenji Fanconi must be distinguished from toxin-acquired Fanconi (gentamicin, tenofovir) and from diabetes mellitus (the Basenji with Fanconi is normoglycaemic with glucosuria). Management of Fanconi requires bicarbonate supplementation and analytical monitoring.
References
1. Goldstein O et al. 2013. A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis. PMID: 24019744. 2. Whitney KM et al. 1994. The molecular basis of canine pyruvate kinase deficiency. Exp Hematol. PMID: 7520391. 3. Farias FHG et al. 2024. FAN1 deletion variant in Basenji dogs with Fanconi syndrome. Genes (Basel). PMID: 39596669. OMIA:001876-9615, OMIA:000844-9615, OMIA:002683-9615.