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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.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
Neuronal Ceroid Lipofuscinoses (CL) kan vises så tidlig som 6 måneder, men også i en mye senere alder. Symptomer kan omfatte delvis til totalt synstap, skjelvinger og vanskeligheter med å gå. Sykdommen utvikler seg sakte.
Tilleggsinformasjon
Referanser
Pubmed ID: 16621647
Omia ID: 1472