Asphyxiating Thoracic Dystrophy

Sponsored diagnostic testing programs for Asphyxiating Thoracic Dystrophy

Asphyxiating thoracic dystrophy (Jeune syndrome) is a skeletal dysplasia characterized by a narrow, bell-shaped chest, short ribs, and short limbs. Respiratory compromise in infancy can be life-threatening, and other organs such as kidneys and liver may be involved. Genetic testing supports diagnosis, prognosis, and family counseling.

1 program found for Asphyxiating Thoracic Dystrophy

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
ViewOrder
Performing labInvitae | Labcorp