What Can Be Learned From This Test
Testing is performed by sequencing the entire coding region and intron-exon junctions of FAM126A. This assay will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
A negative test does not rule out a genetic cause of a neurologic disorder. There are many other genes associated with different types of neurologic disorders and leukodystrophies, some of which are available for testing in our laboratory and can be performed if clinically indicated.
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