Affected gene: PKLR
Transmission: Autosomal recessive
Mutation: CanFam3.1 7 g.42269752_42269757dup c.1333_1338dup
6 bp insertion (ins AAGACC or ACCAAG)
OMIA link: 000844-9615

Breeds suitable for testing : Cairn Terrier, West Highland White Terrier, Westie

References:
Skelly BJ, Wallace M, Rajpurohit YR, Wang P, Giger U. Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. Am J Vet Res. 1999 Sep;60(9):1169-72. [PubMed: 10490091]