Isolated Microphthalmia

Sponsored diagnostic testing programs for Isolated Microphthalmia

Isolated microphthalmia is a congenital eye anomaly in which one or both globes are abnormally small without major extraocular malformations or systemic syndromes. Vision may be significantly reduced depending on severity. Genetic testing can confirm the diagnosis, distinguish syndromic from non-syndromic forms, and inform counseling.

1 program found for Isolated Microphthalmia

Programs

1 program
Invitae Unlock™

Invitae Inherited Retinal Disorders Panel

This program offers U.S. clinicians access to comprehensive genetic testing for patients with suspected inherited retinal diseases, including RP, CRD, LCA, Stargardt disease, and other IRDs. Testing is also appropriate for asymptomatic individuals with a family history of IRD or a known pathogenic variant in a relevant gene, supporting diagnosis, risk assessment, and patient management.

Ophthalmology
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Performing labInvitae | Labcorp