Characteristics of the test: (includes 1 gene)
MYOC (OMIM #601652)

Basic characteristics of the clinical phenotype:
Glaucoma includes a group of diseases in which there is a persistently elevated intraocular pressure (IOP), which irreversibly damages the optic nerve and leads to progressive damage to central and peripheral vision. Left untreated, glaucoma leads to complete loss of visual function and absolute blindness. Increased IOP leads to permanent and irreversible damage to the optic fibers and thus to a progressive reduction of visual functions.

Open- and closed-angle glaucoma are rare before the age of 40, and the incidence increases gradually with the age (due to the aging of the population in developed countries, a further increase in incidence is expected).
Secondary glaucoma includes a group of diseases in which increased IOP is due to inflammation due to trauma, an intraocular tumor, or another cause.
The most common cause (10-33%) of juvenile open-angle glaucoma is mutations in the MYOC gene, with autosomal dominant inheritance.

Reasons for referring:
Candidates for this test are all patients with symptoms of juvenile and late-onset open- and closed-angle glaucoma, as well as relatives of patients in whom the mutation is known.

Interpretation of results:
· The detection of point mutations and small deletions/insertions in the MYOC gene will allow the genetic diagnosis of Juvenile and late-onset open- and closed-angle glaucoma.
· 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: Sanger sequencing.
The method involves bi-directional DNA sequencing of all coding exons and intron-exon boundaries of the MYOC gene. The laboratory offers single exon or exon pair sequencing in relatives of patients to determine carrier status in cases where the mutation is known (Test #128).

Sensitivity of the method: 99.5%

What does the test involve?
· DNA isolation and sample storage.
· Direct sequencing of target genes/gene regions to detect pathogenic mutations.
· 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.