Distal arthrogryposes (DA) and lethal congenital contracture syndrome (LCCS) are clinically related, genetically heterogeneous groups of disorders. DA is characterized by non-progressive congenital contractures of the upper and lower limbs not due to a primary neurologic or muscle disease. Other common findings include camptodactyly, clubfoot, facial dysmorphism, epicanthal folds, strabismus, ptosis, short stature and scoliosis. LCCS is more severe. Typical findings include 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 congenital contracture syndrome extended NGS Panel consists of thirty-one genes: ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42 and ZMPSTE24.

Copy number variation (CNV) analysis of the congenital contracture syndrome extended panel genes is also offered. 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.