Characteristics of the test: (includes 1 gene)
BEST1 (OMIM #607854)

Basic characteristics of the clinical phenotype:
Mutations in the BEST1 gene (OMIM #607854) are responsible for a wide range of diseases, including retinitis pigmentosa, vitreoretinopathy, macular dystrophy, etc. retinal degenerations.

Reasons for referring:
All patients with symptoms of vitreoretinochoroidopathy, microcornea, Retinitis pigmentosa, Cone-rod dystrophy, bestrophinopathy, macular dystrophy, vitelliform macular dystrophy, cataract.

Interpretation of results:

The establishment of point mutations and small deletions/insertions in the BEST1 gene will allow the genetic diagnosis of vitreoretinochoroidopathy, microcornea, retinitis pigmentosa, Cone-rod dystrophy, bestrophinopathy, macular dystrophy, vitelliform macular dystrophy, cataract.

· 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 BEST1 gene. The laboratory offers single exon or exon pair sequencing in the patient's relatives to determine the carrier status in cases where the mutation is known (Test #182).

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.