Persistent Hyperplastic Primary Vitreous (PHPVAR)

Sponsored diagnostic testing programs for Persistent Hyperplastic Primary Vitreous (PHPVAR)

Persistent hyperplastic primary vitreous is a congenital eye disorder in which the embryologic vitreous fails to regress, causing leukocoria, cataract, microphthalmia, or retinal detachment. Vision impairment varies based on severity. Genetic testing helps confirm the diagnosis and differentiate isolated from syndromic forms.

1 program found for Persistent Hyperplastic Primary Vitreous (PHPVAR)

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