Genetic analysis of serum/plasma DNA using a probe for specific nucleotide sequences (e.g., single nucleotide polymorphism or mutation detection)

What This Test Measures

The test analyzes DNA extracted from your blood (serum or plasma) to detect particular genetic sequences. These sequences may represent mutations, single nucleotide polymorphisms (SNPs), or other genetic markers. The probe used targets specific DNA fragments to identify whether they match known genetic patterns.

How the Test Works

Your blood sample is processed to isolate DNA. The DNA is then exposed to a labeled probe that binds only to the specific genetic sequences of interest. Detection methods (such as fluorescence or chemiluminescence) identify where the probe binds, revealing the presence or absence of the targeted genetic variation.

Common Uses

This type of genetic testing is often used for carrier screening, prenatal diagnosis, genetic counseling, and identifying inherited conditions like cystic fibrosis, sickle cell anemia, or certain cancers. It may also be used in research or for conditions where genetic predisposition is a factor.

Preparation for the Test

No special preparation is usually needed for this test. You may be asked to fast or avoid certain medications, but your healthcare provider will guide you. Bring any relevant medical history or family history of genetic conditions to your appointment.