Polyneuropathy (AMPN) – Alaskan Malamute
Kodas: H495
Short description
Polyneuropathy is a neurological disorder characterized by damage to the peripheral nerves.
General information
Polyneuropathy is a neurological disorder characterized by damage to the peripheral nerves. The variant of the disease analysed in this test is found in the Alaskan Malamute, and is known as Alaskan Malamute Polyneuropathy (AMPN). It is caused by a recessive mutation to the gene NDRG1. A related variant, GHPN, is found in the Greyhound.
Specifications
| Breeds | |
|---|---|
| Gene | NDRG1 |
| Chromosome | 13 |
| Mutation | c.293G>T |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Clinical features include weakness, numbness, and pain of the feet progressing to the legs and other body parts. The disease can be acute or chronic.
References
Pubmed ID: 23393557
Year published: 2013
Omia ID: 2120
Omia variant ID:
Turnaround information
- 10 working days