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Dog DNA testing illustration

Neuronal Ceroid Lipofuscinosis 6 (NCL6) – Australian Shepherd

Code: H330

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 referring to 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 referring to 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 of the disease, known as Neuronal Ceroid Lipofuscinosis 6 (NCL6), is found in the Australian Shepherd, and is caused by a recessive mutation to the gene CLN6.

Specifications

Breeds

Australian Shepherd, Miniature American Shepherd
Gene

CLN6
Chromosome

30
Mutation

c.829T>C
Organ

Sensory organs
Specimen

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

Autosomal Recessive
Also known as

NCL6

Clinical features

Symptoms of NCL6 include decreased vision progressing to complete blindness. Progressive neurological symptoms which have been observed are anxiety, circling behavior and loss of coordination.

References

Pubmed ID: 21234413

Year published: 2011

Omia ID: 1443

Omia variant ID:

Turnaround information

  • 15 working days