Genetic probe analysis for specific DNA sequence variants (e.g., single nucleotide polymorphisms or small insertions/deletions)

What This Test Measures

This test uses a specialized probe to detect particular DNA sequences in a sample of your blood or other bodily fluid. The probe binds to specific genetic markers, allowing for precise identification of variations such as single nucleotide polymorphisms (SNPs) or small genetic mutations.

How the Test Works

The test involves collecting a sample (usually blood) and analyzing it through a molecular technique that detects the presence or absence of specific DNA sequences. The probe targets regions of your DNA that may contain variations of interest.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of genetic conditions, are considering genetic counseling, or if certain symptoms or medical history suggest a genetic basis for your health concerns.

Common Uses

Common reasons include preconception or prenatal screening, diagnosing inherited disorders, assessing risk for certain cancers, evaluating responses to medications, or confirming genetic conditions suspected through family history or symptoms.