Probe-based amplification test for genetic variants in DNA extracted from whole blood (qualitative detection of specific nucleotide sequences)

What This Test Measures

The test uses a specialized probe to identify specific DNA sequences in your blood sample. These sequences are often linked to known genetic conditions, such as hereditary cancers, metabolic disorders, or other genetic syndromes. The probe binds to matching DNA fragments, allowing for detection through amplification techniques.

How the Test Works

Your blood sample is processed to extract DNA. The probe targets a particular nucleotide sequence in your DNA, and if present, it triggers a detectable signal (e.g., fluorescence or color change) confirming the genetic variant’s presence. This method is highly sensitive and precise for detecting small changes in your genetic material.

Why It’s Done

Healthcare providers may order this test to assess genetic risk for conditions like hereditary breast and ovarian cancer (e.g., BRCA mutations), Lynch syndrome, or other inherited disorders. It can also be part of prenatal testing, cancer screening, or genetic counseling evaluations.

Sample Collection

A small blood sample is drawn from your arm, similar to a routine blood test. The sample is then sent to a lab for DNA extraction and genetic analysis. No special preparation is needed, but fasting may not be required unless specified by your doctor.