What Can Be Learned From This Test
Testing is performed by sequencing the entire coding region of the GCM2 gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
A negative test result does not rule out a diagnosis of familial isolated hypoparathyroidism (FIH). Other genes are known to be associated with FIH and this test will only detect mutations in GCM2.
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