Arthrogryposis is a term used to describe multiple congenital contractures that affect two or more different areas of the body. Distal Arthrogryposes are a group of autosomal dominant disorders that are mainly characterized by the involvement of the distal parts of the limbs without primary neurological and/or muscle disease. Findings include a consistent pattern of hand and foot involvement, limited involvement of proximal joints and variable expressivity.
Our Distal Arthrogryposes Sequencing Panel includes the following ten genes: TPM2, MYBPC1, MYH3, TNNT3, TNNI2, ECEL1, MYH8, FBN2, CHST14, PIEZO2
Any gene in the Distal Arthrogryposes Sequencing panel can also be ordered individually. Please contact us directly for cost and CPT code information.