What Can Be Learned From This Test
Testing is performed by sequencing all exons and at least 25 base pairs of the surrounding intronic regions of the POLR1C gene. This will detect point mutations, small deletions, and small insertions. It will not detect a partial or whole gene deletion or duplication. To date, no large deletions or duplications have been reported.
Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turn-around time: 10-14 business days per tier
CPT Codes and Cost
Full Gene Sequencing
Known Variant Testing