Methaemoglobinaemia is an autosomal recessive disorder of NADH cytochrome B5 reductase deficiency. It is characterized by a defect of cytochrome B5 reductase pathway causing oxidation of haemoglobin to methaemoglobin, which overwhelms the reductive capacity of this pathway, crucial for maintaining methaemoglobin concentrations at < 2 % of total haemoglobin. The clinical signs include decreased energy or exertional syncope, which are consequences of tissue hypoxia.

Inheritance: autosomal recessive - read more

Mutation: CYB5R3 gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.