What This Test Can Tell Us
A blood test will tell us if both hemoglobin beta genes are typical, or if SCD or SCT are present. This test is performed by sequencing the region of the HBB gene associated with hemoglobin S. This test will only detect the variants associated with Hb S, Hb SS, or Hb SC. It will not detect a whole gene deletion or duplication of the HBB gene. A separate copy number assay may be needed to determine whether a deletion or duplication of the region exists.
This is the only gene known to be associated with sickle cell status. A negative test does not rule out other hemoglobinopathies since a variant could be in a region not sequenced with this test.
Draw 2ml–4ml of blood in one EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turnaround time: 7–10 business days
CPT Codes and Cost
Carrier Variant Testing