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.

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.

- Bas-PRA1: night blindness and progressive visual loss of adult onset; fundus changes (hyperreflective tapetum, attenuated vessels)\n- PK: chronic haemolytic anaemia with pale mucosae, lethargy, jaundice, splenomegaly\n- Fanconi: polyuria/polydipsia, normoglycaemic glucosuria, weight loss, metabolic acidosis\n- Fanconi: variable adult onset (3-12 years); ketoacidosis possible in advanced stages

Basenji PRA was differentiated from prcd-PRA by Goldstein et al. (2006) and was attributed to a non-stop variant in the SAG gene (c.1216T>C, p.*405Rext*25) by Goldstein and colleagues (2013, Molecular Vision). Canine pyruvate kinase deficiency has been associated with mutations in PKLR since the 1970s-90s and the Basenji is one of the classically affected breeds. Basenji Fanconi syndrome was described in 1976; its molecular basis was identified by Farias and colleagues in a thesis (2011) and finally published in 2024 (Genes), as a 317 bp deletion in the last exon of FAN1.

- 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

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.

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.