Characteristics of the test: (includes 14 genes)

Basic characteristics of the clinical phenotype:
Stargardt disease (STGD, OMIM #248200) is a form of macular dystrophy with onset at a young age and is characterized by degeneration of photoreceptor cells in the area of ​​the macula. As a result, there is severe impairment of central vision and a variable phenotype in terms of age of onset and severity. STGD is among the most common childhood macular degenerations, accounting for about 7% of all retinal degeneration cases and an incidence of 1 in 10,000. The carrier rate is approximately 2%. The clinical picture in those affected includes a wide range of pathological changes such as progressive bilateral macular degeneration, distinctive pale yellow spots called drusen, disorders in the retinal pigment epithelium, choroidal neovascularization. Macular degeneration develops as part of the body's natural aging process.

Age-related macular degeneration (AMD, OMIM #603075) is the leading cause of blindness in Western Europe and is the third leading cause of vision loss worldwide. AMD is the leading cause of progressive and irreversible vision loss in the elderly population, affecting approximately one in three people over the age of 60. AMD is characterized by progressive degeneration of the macula, the retinal pigment epithelium and the choriocapillaries that provide blood access to the retina .

Reasons for referring:
All patients with symptoms of with symptoms of MD, STGD, CORD, RP.

Interpretation of results:
· Detection of point mutations and small deletions/insertions in genes from the panel will allow a genetic diagnosis of Macular Degeneration.
· Presence of large deletions and insertions cannot be detected by this method. A combination with a suitable CNV analysis (MLPA, aCGH) is recommended for their detection.
· The genetic counselor will interpret and answer all questions about your result.

Method: Next-generation sequencing.
The method involves bi-directional DNA sequencing of all coding exons and intron-exon boundaries of the target genes. The laboratory offers Sanger sequencing of a single exon or a pair of exons in the patient's relatives to determine the carrier status in cases where the mutation is known (Test #182).

Sensitivity of the method: depends on the content of G-C and A-T, as well as the presence of segmentally duplicated genes.

What does the test involve?
· DNA isolation and sample storage.
· Parallel sequencing of target genes.
· Bioinformatic analysis of sequencing data. For each patient, only data for the gene(s) of interest were analyzed.
· 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.