Genetic mutation screening in whole blood (next-generation sequencing)

What This Test Measures

The test analyzes a portion of your blood to detect mutations in selected genes. These mutations are small changes in your DNA sequence that may affect how your body functions. The test uses a high-tech method to read your entire blood cell DNA for targeted gene regions of interest.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of certain genetic conditions, symptoms that suggest a genetic disorder, or if you’re at higher risk due to ethnicity or other factors. It can also be used for prenatal screening, carrier testing, or monitoring certain inherited conditions.

Sample Collection and Preparation

A small blood sample is drawn from your arm, similar to a regular blood test. The blood is processed to isolate DNA, which is then analyzed in a specialized laboratory using advanced sequencing technology to identify mutations in the targeted genes.

What to Expect Before the Test

No special preparation is usually needed, but you may be asked to avoid certain medications or foods that could interfere with the test results. Your provider will discuss any restrictions with you before the test.