Joubert Syndrome and Related Disorders (JSRD)

Sponsored diagnostic testing programs for Joubert Syndrome and Related Disorders (JSRD)

Joubert syndrome and related disorders are ciliopathies characterized by the molar tooth sign on brain MRI, hypotonia, developmental delay, abnormal eye movements, and disordered breathing in infancy. Additional organ involvement can include retina, kidneys, and liver. Genetic testing clarifies the subtype, informs prognosis, and guides surveillance.

1 program found for Joubert Syndrome and Related Disorders (JSRD)

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