What Can Be Learned From This Test
Testing is performed by sequencing the entire coding region and the surrounding intronic regions of the CHRNG gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
CHRNG is the only gene known to be associated with Escobar syndrome. Lethal multiple pterygium syndrome has been associated with CHRNG mutations, as well as mutations in the related genes, CHRNA1 and CHRND.
Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turnaround time: 10-14 business days
CPT Codes and Cost
Full Gene Sequencing
Known Variant Testing