The genetic variants analyzed in this panel are closely related to or, potentially, the cause of major ophthalmologic conditions
Ophthalmology panel is a comprehensive panel that tests for genetic variants associated with a wide range of eye disorders, including retinal diseases, optic neuropathies, and congenital cataracts. Eye disorders are caused by mutations in genes involved in the development and function of the eye, and this panel tests for genetic variants that are known to affect these processes.
This panel is designed for individuals with a family history of eye disorders or individuals with symptoms of the conditions, such as vision loss, color blindness, and cataracts. Genetic testing can confirm a diagnosis, provide information on disease severity and progression, and inform treatment and management decisions. Testing can also inform family planning decisions and provide reassurance for unaffected family members.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- More than 235 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Ceroid Lipofuscinosis
- Bardet-Biedl Syndrome
- Brown-Vialetto-Van Laere Syndrome
- Joubert Syndrome and Meckel Syndrome
Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.