Use

Limb Abnormalities and Reduction Defects Panel evaluates a broad and genetically heterogeneous spectrum of syndromic and non‑syndromic skeletal disorders. Pathogenic variants in the genes tested can cause malformations ranging from complete absence of limbs to mild phalangeal anomalies, including syndromic conditions such as Adams‑Oliver syndrome, Coffin‑Siris syndrome, and various other limb malformation disorders. The panel facilitates molecular diagnosis by comprehensive sequencing and copy‑number analysis of implicated genes, thus aiding genetic counseling, recurrence‑risk estimation, and clinical management.