Hypotrichosis with Juvenile Macular Dystrophy (HJMD)

Sponsored diagnostic testing programs for Hypotrichosis with Juvenile Macular Dystrophy (HJMD)

Hypotrichosis with juvenile macular dystrophy is a rare disorder combining sparse scalp hair with progressive macular degeneration leading to central vision loss in childhood or adolescence. Peripheral vision is often preserved. Genetic testing confirms the diagnosis and informs monitoring and family counseling.

1 program found for Hypotrichosis with Juvenile Macular Dystrophy (HJMD)

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