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H769

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.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

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.

Clinical features

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

Additional information

References

Pubmed ID: 11124530

Omia ID: 1669

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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