Intermediate
Technical
In the Industry Vocabulary Test
molecular testing
DNA-based confirmatory testing used to identify specific genetic mutations after abnormal newborn screening results.
Full Definition
Laboratory analysis that examines DNA sequences to identify specific genetic mutations causing inherited conditions detected through newborn screening. Molecular testing provides definitive diagnosis by identifying the exact genetic changes responsible for the condition, which is essential for confirming the diagnosis, determining prognosis, providing genetic counseling, and identifying carriers within the family. This testing has become increasingly important as screening programs expand to include more genetic conditions.
Usage
Usage note: Hyphenate when used as a compound modifier (molecular-testing protocol).
In Context
- "Molecular testing confirmed the specific mutation causing the infant's metabolic disorder." — Genetic laboratory report
- "Second-tier molecular testing reduces false-positive rates in screening programs." — Laboratory methodology
Also known as
DNA testing
genetic sequencing
Contrasted with
biochemical testing
enzymatic analysis
Don't confuse with
enzyme testing
metabolite analysis