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Cat DNA testing illustration

Alpha-Mannosidosis (AMD) – Cat

Code: K302

74,72 €

Sample details

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

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Short description

Alpha-Mannosidosis (AMD) is a severe metabolic disease that affects the central nervous system, resulting in loss of coordination, tremors and ultimately death.

General information

Alpha-Mannosidosis (AMD) is a severe metabolic disease that affects the central nervous system, resulting in loss of coordination, tremors and ultimately death. In cats, the disease is caused by a recessive mutation to the gene MAN2B1. The variant analysed in this test occurs primarily in the Persian cat and related breeds.

Specifications

Breeds

Exotic Longhair, Exotic Shorthair, Persian
Gene

MAN2B1
Chromosome

A2
Mutation

c.1749_1752delCCAG
Organ

Nervous System
Specimen

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

Autosomal Recessive
Also known as

a-Mannosidosis; AMD

Clinical features

Clinical features for affected cats can include progressive ataxia (loss of coordination), loss of apetite, lethargy and paralysis. The disease is severe, and affected cats are typically euthanized on humane grounds within the first year of age.

References

Pubmed ID: 9396732

Year published: 1997

Omia ID: 625

Omia variant ID:

Turnaround information

  • 15 working days