DNA panel specific to the Siberian that combines genetic determination of the blood group with screening for pyruvate kinase (PK) deficiency and two aesthetic traits: the colourpoint pattern (typical of the Neva Masquerade variety) and coat dilution. PK deficiency is the only disease included: a hereditary chronic haemolytic anaemia. It is performed from a buccal swab or blood. It allows both prevention of a recessive disease and reliable planning of litter colours.

PK deficiency is present in the Siberian with a low frequency (limited data in the breed). The colourpoint allele is frequent in Neva Masquerade lines and dilution is common in many breeding programmes. Population frequency data are limited.

- PK deficiency: intermittent and chronic haemolytic anaemia with lethargy, pale mucous membranes, jaundice and splenomegaly
- Neonatal isoerythrolysis due to blood group incompatibility
- Colourpoint and dilution: aesthetic traits without clinical signs

The Siberian is a natural Russian breed, and its colourpoint variety (Neva Masquerade) is explained by the classic point allele of the TYR gene, molecularly characterised in 2005. Pyruvate kinase deficiency, initially described in the Abyssinian, was later detected in the Siberian, with identification of the causative variant in the PKLR gene, which allowed a specific test. Coat dilution is associated with the MLPH gene, one of the best-characterised colour genes in mammals. The AB blood group system was deciphered in 2007 with the identification of the CMAH gene.

- Never mate two carriers of PK deficiency: an expected 25% of the litter would be affected
- PK carriers can be mated with clear animals and gradually withdrawn rather than excluded
- Determine the blood group before mating to prevent neonatal isoerythrolysis
- Use the TYR and MLPH results to predict litter colours, with no health implication

In Siberians with anaemia or intermittent lethargy, include PK deficiency in the differential diagnosis and consider a complete blood count with reticulocytes and enzyme activity. The genetic blood group predicts the b allele; cross-matching is recommended before transfusions. The colour traits have no clinical relevance whatsoever.

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