Description
Purpose of the Test:
• Diagnose sickle cell disease or sickle cell trait
• Identify carriers of the sickle cell gene, even if they do not show symptoms
• Confirm a diagnosis when hemoglobin electrophoresis results are inconclusive
• Screen newborns or individuals with a family history of sickle cell disease
• Help with genetic counseling for families at risk of having a child with sickle cell disease
What the Test Involves:
• A blood sample is drawn, typically from a vein in your arm
• The DNA is extracted from the white blood cells and analyzed using PCR technology
• The PCR process amplifies specific regions of the HBB gene to identify the presence of the HbS mutation
• The test can identify whether the individual has:
o Sickle Cell Disease (homozygous HbSS)
o Sickle Cell Trait (heterozygous HbAS)
o Normal hemoglobin genotype (HbAA)
• This test is highly accurate and can detect even small amounts of sickle cell DNA


