Lethal congenital contracture syndrome (LCCS) is a group of genetically heterogeneous disorders characterized by multiple congenital joint contractures, intrauterine growth retardation, dysmorphic facial features, pulmonary hypoplasia, muscular atrophy, decreased fetal movement, and polyhydramnios. Akinesia, hypotonia, areflexia, diaphragmatic atrophy and pterygium may also be present.

The lethal congenital contractual syndrome and related disorders NGS Panel consists of twenty-two genes: ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, NEK9, PIP5K1C, RAPSN, VIPAS39, VPS33B, ZBTB42 and ZMPSTE24.

Copy number variation (CNV) analysis of the LCCS and related disorders genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.