Services

Comprehensive Eye Disorders Panel

The Comprehensive Eye Disorders Panel is an analysis of 72 genes associated with an increased risk for hereditary eye conditions. Consequently, this is a comprehensive analysis for increased risk for hereditary eye conditions.

Most Appropriate Patient Population for Testing:

Patients with a personal or family history suggestive of a hereditary eye condition. Indications for hereditary eye condition testing include personal history of non-specific ocular findings that have not been explained by other testing, early onset of symptoms, similar or the same ocular findings/symptoms across multiple close related family members.

Benefits of Testing:

Hereditary eye conditions are characterized by remarkable genetic heterogeneity and significant phenotypic overlap between related conditions. Molecular genetic diagnostic testing is the most efficient way to subtype these conditions. High quality testing combined with clinical interpretation provide the necessary information to confidently make individualized treatment and management
decisions. In addition to its value in making a clinical diagnosis, genetic diagnosis is key to understanding the inheritance pattern and prognosis of each disease. Genetic diagnosis can also help in genetic counseling and family planning. Additionally, a potential benefit of genetic diagnosis is the opportunity to access novel therapies. Also, if a patient tests positive then the patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in the patient, close blood relatives (children, siblings, parents) may have as great as a 50% risk to also have this same genetic variant and be at increased risk for the associated condition.