Ehlers-Danlos syndrome Sequencing

Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen. The collagen in connective tissue helps tissues to resist deformation. Collagen plays a very significant role in the skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen leads increased elasticity within these structures. Depending on the individual, the severity of the mutation can vary from mild to life-threatening. There is no cure, and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Physical therapy, bracing, and corrective surgery may help with the frequent injuries and pain that tend to develop in certain types of EDS, although extra caution is advised and special practices should be observed to prevent permanant damage.

We provide sequencing for Ehlers-Danlos Musculocontractural Type which is associated with mutations of the CHST14 gene, chromosome locus 15q15.1.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 code 756.83

Test Requisition: Sequencing Requisition

CPT Code: 81479 Cost: $548.00

Turn-around-time: 3-4 weeks