Skeletal Dysplasias

Sponsored diagnostic testing programs for Skeletal Dysplasias

Skeletal dysplasias are a diverse group of inherited disorders that affect bone and cartilage growth, leading to abnormalities in skeletal development. These conditions can present with short stature, limb deformities, spine abnormalities, or joint issues, and may range from mild to life-threatening. Genetic testing helps identify the underlying cause, guide management, and inform family counseling.

1 program found for Skeletal Dysplasias

Programs

1 program
Discover Dysplasias
Sponsored by
BioMarin

Invitae Skeletal Disorders Panel

The Discover Dysplasias™ program provides sponsored genetic testing and counseling for patients 16 years or younger with suspected skeletal dysplasia. Given the strong genetic basis of most dysplasias, this no-charge panel helps shorten the path to diagnosis by detecting many of the most frequent genetic contributors. Faster confirmation may support earlier, disease-specific evaluation and management planning.

Musculoskeletal
Skeletal Dysplasias - Sponsored Testing Programs | Sponsored Testing