Neuronal Ceroid Lipofuscinosis 2 (NCL2) – Dachshund
Kodas: H499
Short description
Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death.
General information
Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 2 (NCL2), is caused by a recessive mutation to the gene TPP1. It is found in the Dachshund.
Specifications
| Breeds | |
|---|---|
| Gene | TPP1 |
| Chromosome | 21 |
| Mutation | c.325delC |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | NCL2 |
Clinical features
Neuronal Ceroid Lipofuscinoses (CL) can appear as early as 6 month but also at a much later age. Symptoms can include partial to total vision loss, tremors and difficulties to walk. The disease progresses slowly.
References
Pubmed ID: 16621647
Year published: 2006
Omia ID: 1472
Omia variant ID:
Turnaround information
- 10 working days