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Dog DNA testing illustration

Congenital Methemoglobinemia – German Spitz (Pomeranian)

Code: H908

74,72 €

Sample details

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

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Short description

Congenital 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

Congenital 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, found in the German Spitz (Pomeranian), is caused by a recessive mutation to the CYB5R3 gene. Another variant has been observed in a mixed-breed dog.

Specifications

Breeds

German Spitz (Pomeranian)

Gene

CYB5R3

Chromosome

10

Mutation

c.580A>C

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: 29356095

Year published: 2018

Omia ID: 2131

Omia variant ID:

Turnaround information

  • 15 working days