Axial Spondylometaphyseal Dysplasia (SMDAX)

Sponsored diagnostic testing programs for Axial Spondylometaphyseal Dysplasia (SMDAX)

Axial spondylometaphyseal dysplasia (SMDAX) is a rare skeletal disorder involving short stature, abnormal vertebrae, and metaphyseal changes of the long bones. Affected individuals may develop spinal deformities and early-onset osteoarthritis. Genetic testing confirms the diagnosis and guides monitoring and orthopedic care.

1 program found for Axial Spondylometaphyseal Dysplasia (SMDAX)

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