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Dog DNA testing illustration

Congenital Methemoglobinemia – All breeds

Code: H694

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Methaemoglobinaemia is a disorder caused by an excess of methaemoglobin in the blood, which can cause lethargy, shallow breathing and increased heart rate.

General information

Methaemoglobinaemia is a disorder caused by an excess of methaemoglobin in the blood, which can cause lethargy, shallow breathing and increased heart rate. This variant, observed in a mixed-breed dog, is caused by a recessive mutation to the CYB5R3 gene. Another variant has been discovered in the German Spitz (Pomeranian).

Specifications

Breeds

All Breeds
Gene

CYB5R3
Chromosome

10
Mutation

c.214G>A
Organ

Cardiovascular System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

Observed symptoms include coughing, shortness of breath, exercise intolerance, increased heart rate and cyanosis (blue coloration) of the membranes of the mouth and genitals. Affected dogs may also respond aggressively when touched on the head or neck. Increased methaemoglobin levels can be confirmed via blood analysis.

References

Pubmed ID: 28963729

Year published: 2017

Omia ID: 2131

Omia variant ID:

Turnaround information

  • 15 working days