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Dog DNA testing illustration

Neuronal Ceroid Lipofuscinosis 7 (NCL7)

Code: H978

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, known as Neuronal Ceroid Lipofuscinosis 7 (NCL 7) is caused by a recessive mutation to the gene MFSD8, and occurs in the Chinese Crested Dog and Chihuahua.

Specifications

Breeds

Chinese Crested, Chihuahua
Gene

MFSD8
Chromosome

19
Mutation

c.843delT
Organ

Nervous System
Specimen

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

Autosomal Recessive
Also known as

NCL7

Clinical features

Affected dogs show neurological symptoms that can include compulsive licking, disorientation, blindness, anxiety, excessive sleep and hyper-responsiveness to stimuli. These symptoms tend to present within the first year of life. The disease is progressive, and euthanasia due to poor quality of life is likely necessary.

References

Pubmed ID: 25551667

Year published: 2015

Omia ID: 1962

Omia variant ID:

Turnaround information

  • 15 working days