Osteoporosis-Pseudoglioma Syndrome (OPPG)

Sponsored diagnostic testing programs for Osteoporosis-Pseudoglioma Syndrome (OPPG)

Osteoporosis-pseudoglioma syndrome is characterized by severe juvenile osteoporosis and congenital or early-onset visual impairment resembling retinoblastoma or other posterior segment pathology. Affected individuals are prone to fractures and progressive vision loss. Genetic testing confirms the diagnosis and guides bone and eye management and counseling.

1 program found for Osteoporosis-Pseudoglioma Syndrome (OPPG)

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