Skeletal Disorders

Genetic disorders affecting the skeleton comprise a large group of clinically distinct and genetically heterogeneous conditions. Clinical presentations range from mild growth delays to neonatal death. Their clinical diversity makes these disorders often difficult to diagnose, and many attempts have been made to delineate single disorders or groups of diseases to assist clinicians with diagnosis. Traditionally, skeletal disorders have been subdivided into dysostoses, defined as malformations of individual bones or groups of bones, and osteochondrodysplasias, defined as developmental disorders of chondro-osseous tissue.

The Northwell Health Genomics Alliance offers genetic testing for rare skeletal disorders. Commonly ordered tests are listed below.

Commonly Ordered Tests

• GD1861E Hypophosphatemic Rickets, X-linked, PHEX Sequencing)
• GD2521 Townes-Brocks syndrome, SALL1 Sequencing
• GD184 Rickets, Hypophosphatemic, Autosomal Dominant, FGF23 Sequencing
• GD2521 SALL1 for Townes-Brocks Syndrome
• GD1811 Hereditary Multiple Exostosis (EXT1/EXT2)

See All Tests for Skeletal Disorders