Molecular Pathology Studies (Genetic Testing)

What Does This Test Measure?

Molecular pathology studies analyze specific genes, chromosomes, or genetic markers in your cells. These tests can detect mutations, deletions, duplications, or other changes in your DNA that may relate to inherited conditions, cancer risks, or how your body processes medications. Some tests focus on single genes, while others examine larger sections of chromosomes or the entire genome.

Common Uses for This Test

These tests are often used to diagnose or confirm genetic disorders, assess cancer risk (e.g., hereditary cancer syndromes), guide personalized treatment plans, or check for genetic predispositions to certain diseases. They may also be used in prenatal screening or before certain surgeries to identify high-risk genetic conditions.

How Is This Test Performed?

A blood sample, saliva sample, or other body fluid (like amniotic fluid in prenatal cases) is collected. The lab then extracts DNA or RNA and uses advanced techniques such as sequencing, fluorescence in situ hybridization (FISH), or polymerase chain reaction (PCR) to analyze genetic material. Results are compared to reference databases to identify any variations.

What Are the Possible Results?

Results can be categorized as normal (no significant genetic variations), positive for a known genetic variation linked to a condition, or indeterminate (where the meaning of the variation is unclear). Some tests may also report variants of unknown significance (VUS), which require further medical evaluation.