Rhizomelic Chondrodysplasia Punctata (RCDP)

Sponsored diagnostic testing programs for Rhizomelic Chondrodysplasia Punctata (RCDP)

RCDP is a peroxisomal disorder characterized by short proximal limbs, cataracts, facial dysmorphism, and severe developmental impairment. Affected infants may have respiratory and feeding difficulties. Genetic testing confirms the diagnosis and guides counseling and supportive management.

1 program found for Rhizomelic Chondrodysplasia Punctata (RCDP)

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