Full-length genomic sequencing of blood DNA for detection of mutations in specified genes (e.g., associated with inherited blood disorders)

What This Test Measures

The test examines DNA extracted from your blood sample to detect mutations in targeted genes. These mutations may be linked to conditions like anemia, blood clotting disorders, or other inherited blood-related issues. The sequencing process identifies changes at the DNA level, which can influence how your body produces proteins related to blood function.

Why It’s Ordered

Your healthcare provider may recommend this test if you have a family history of blood disorders, symptoms like fatigue, unusual bleeding, or clotting, or if you’re at higher genetic risk for certain conditions. It can also be used for prenatal screening or carrier testing in families with known genetic blood disorders.

Sample Collection and Process

A blood sample is drawn from your arm, similar to other blood tests. The DNA is then isolated from the blood cells and sequenced to identify specific mutations. Results are compared against known genetic references to determine if mutations are present.

What to Expect Before the Test

No special preparation is needed, but inform your provider about any medications, supplements, or recent illnesses that could affect results. Avoid strenuous activity 24 hours before the test if instructed.