Bardet-Biedl Syndrome (BBS)

Sponsored diagnostic testing programs for Bardet-Biedl Syndrome (BBS)

Bardet-Biedl syndrome is a multisystem ciliopathy characterized by rod-cone dystrophy, obesity, polydactyly, kidney anomalies, learning difficulties, and hypogonadism. Vision loss often begins in childhood due to retinal degeneration. Genetic testing confirms the diagnosis and informs management and family counseling.

2 programs found for Bardet-Biedl Syndrome (BBS)

Programs

2 programs
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
Rare Genetic Diseases of ObesityBardet-Biedl Syndrome (BBS)

Uncovering Rare Obesity™

Sponsored by
Rhythm Pharmaceuticals

Uncovering Rare Obesity Gene Pane

This program provides no-cost genetic testing for patients in the U.S. and Canada with early-onset or severe obesity or features suggesting a monogenic or syndromic cause. The 87-gene panel includes key leptin–melanocortin pathway and Bardet–Biedl syndrome genes, with kits and testing costs covered by the sponsor.

Endocrinology
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Performing labPrevention Genetics