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Dog DNA testing illustration

Neuronal Ceroid Lipofuscinosis 2 (NCL2) – Dachshund

Code: H499

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 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

Dachshund
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

  • 15 working days