Pyruvate Kinase Deficiency (Haemolytic Anaemia)

The following labs currently test for Pyruvate Kinase Deficiency (PKD) or Haemolytic Anaemia (HA) by DNA test. Through clinical assessment and andecdotally reported longevity os PK-deficient dogs, it appears that Basenjis have a more severe haemolytic anaemia leading to earlier death an other breeds affected by this disease such as Beagles. Basenjis with this condition do not live past 5 years most dying much earlier where as in Beagles they can live to 9 years. The disease is autosomal recessive with normal, carrier and affected results. Testing began in the 1970s using blood samples. The good news is that due to the diligence of breeders this condition is thought to be eradicated from the breed; only one carrier has been reported in the past 15+ years.

Disease Gene Mutation Information
Mutation: single base deletion
Gene: PK-LR Gene ID: 490425
Chromosome: 7

PRA in Basenjis

The following laboratories test for PRA in Basenjis. The test is a DNA test. The disease is autosomal recessive with normal, carrier and affected results.

Disease Gene Mutation Information
Mutation: C.1216T>6
Gene: SAG
Chromosome: 25
Research Link:  http://www.molvis.org/molvis/v19/1871/mv-v19-1871….

Fanconi Syndrome in Basenjis

The following labs currently test for fanconi syndrome by DNA test. The disease is autosomal recessive with normal, carrier and affected results.

Disease Gene Mutation Information
Mutation: 321bp deletion
Gene: FAN1
OMIM: 134600,227810
OMIA: 000366-9615
Chromosome: 3
Research Link: http://www.ashg.org/2012meeting/abstracts/fulltext…