What Can Be Learned From This Test
Testing is performed by sequencing all exons and the surrounding intronic regions of the SLC22A12 and SLC2A9 genes. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
To date, a deletion of exon 7 as well as a large duplication of exons 1a — 11, have been reported in the SLC2A9 gene. A copy number assay for these regions of SLC2A9 can also be performed.
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