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Dog DNA testing illustration

Neuronal Ceroid Lipofuscinosis 8 (NCL8) – English Setter

Code: H652

74,72 €

Sample details

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

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Short description

Neuronal Ceroid Lipofuscinosis (NCL) is 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 a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, Neuronal Ceroid Lipofuscinosis type 8 (NCL8), is caused by a recessive mutation to the Ceroid‑Lipofuscinosis, Neuronal 8 (CLN8), and occurs in the English Setter. Other variants of NCL8 are found in the Australian Shepherd, German Shorthaired Pointer, Alpenländische Dachsbracke and Saluki.

Specifications

Breeds

English Setter
Gene

CLN8
Chromosome

37
Mutation

c.491T>C
Organ

Nervous System
Specimen

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

Autosomal Recessive
Also known as

NCL8

Clinical features

Affected dogs develop symptoms of NCL between approximately 1 and 2 years of age. These symptoms include seizures, loss of vision, and decline of motor and cognitive ability. Most die from seizures by the age of 2 years.

References

Pubmed ID: 15629147

Year published: 2005

Omia ID: 1506

Omia variant ID:

Turnaround information

  • 15 working days