Characteristics of the test: (includes 1 gene)
EYS (OMIM#612424)

Basic characteristics of the clinical phenotype:
Retinitis pigmentosa (Retinitis pigmentosa, RP, OMIM #268000) is a group of hereditary retinal dystrophies with a worldwide incidence of 1:4000. In this disease, initially the rods are affected, and later the cones. Clinical features associated with most cases of RP include night blindness (nyctalopia), waxy pallor of the optic disc, narrowed blood vessels, presence of pigmentary masses, followed by progressive loss of the peripheral vision in daylight and eventual blindness.

Non-syndromic retinal pigment degeneration is a genetically and clinically heterogeneous disease. At least four forms are known so far, depending on the mode of inheritance. This includes autosomal dominant form of RP (adRP), autosomal recessive (arRP), X-linked and digenic. Also, RP may also be inherited in a mitochondrial pattern. Patients with adRP account for about 15–25% of RP cases; arRP – 30%; X-linked RP is the rarest inherited form and is responsible for 10-20% of cases.

Reasons for referring:

All patients with symptoms of autosomal recessive (arRP) or X-linked retinal pigment degeneration.

Method: MLPA (Multiplex Ligation Dependent Probe Amplification)
MLPA is a semi-quantitative method for determining DNA copy number. The methodology is used to detect intragenic or whole-gene deletions or duplications.

Sensitivity of the method: 90%

What does the test involve?
· DNA isolation and sample storage.
· MLPA to detect deletions/duplications affecting the EYS gene.
· Forming a written result of the genetic test.
· Diagnostic interpretation of results and genetic counseling.

Biological material: Venous blood or DNA
For more information, please read the "Biological material requirements and shipping information" carefully.