Breed-specific DNA panel for the Maine Coon that combines genetic determination of blood group with screening for three hereditary diseases of the breed: hypertrophic cardiomyopathy associated with MYBPC3 (HCM1), pyruvate kinase deficiency (PK) and spinal muscular atrophy (SMA). It covers the haematological, cardiac and neuromuscular systems. It is performed from a buccal swab or blood and identifies carrier and affected animals. It is one of the most widely used preventive panels in feline breeding.

In early studies, p.A31P allele frequencies of around 20-40% were reported depending on the population, figures that have declined thanks to screening. PK deficiency and SMA are present at low or moderate frequency in the breed. HCM remains, as a clinical entity, one of the main causes of mortality in the Maine Coon.

- HCM: heart murmur, gallop rhythm, dyspnoea, syncope, aortic thromboembolism with hindlimb paralysis and sudden death\n- PK deficiency: intermittent and chronic haemolytic anaemia, lethargy, pale or icteric mucous membranes and splenomegaly\n- SMA: neurogenic muscle atrophy with weakness and characteristic gait in kittens a few months old\n- Neonatal isoerythrolysis due to blood group incompatibility

Familial hypertrophic cardiomyopathy was recognised in the Maine Coon in the late 1990s through clinical and echocardiographic studies. In 2005 the p.A31P variant of the MYBPC3 gene was identified as a major risk factor, which enabled the first DNA test for feline HCM. Pyruvate kinase deficiency, initially characterised in the Abyssinian, was later also detected in the Maine Coon. The breed's spinal muscular atrophy was described in the early 21st century and associated with a deletion in the LIX1 gene region.

- For HCM1: heterozygotes mostly do not become ill; if carriers are used, mate only with clear cats and echo annually\n- PK: highly variable course (from asymptomatic to severe); periodic haematological checks\n- SMA: not lethal but disabling; indoor life, do not breed affected cats\n- Carriers of recessive traits × clear, gradual withdrawal for diversity\n- Blood group before mating (isoerythrolysis)\n- HCM1 negative ≠ HCM free: keep up echo

Genetic testing does not replace echocardiography: Maine Coons negative for p.A31P may develop HCM due to other loci not yet identified. In PK deficiency interpret the result together with the blood count and reticulocytes. SMA is differentiated from other myopathies and arthropathies by neurological examination.

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