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Dog DNA testing illustration

Progressive Retinal Atrophy (rcd1a-PRA) – Sloughi

Code: H769

74,72 €

Sample details

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

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Short description

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision.

General information

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This specific variant of the disorder, known as Rod-Cone Dysplasia 1a (rcd1a or rcd1a-PRA), is caused by a recessive mutation to the gene PDE6B. It is found in the Sloughi.

Specifications

Breeds

Sloughi
Gene

PDE6B
Chromosome

3
Mutation

c.2448_2449insTGAAGTCC
Organ

Sensory organs
Specimen

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

Autosomal Recessive
Also known as

rcd1a; rcd1a-PRA

Clinical features

rcd1a-PRA is characterised by poor dark vision, visual field defects which can progress to blindness over a period of time.

References

Pubmed ID: 11124530

Year published: 2000

Omia ID: 1669

Omia variant ID:

Turnaround information

  • 15 working days