Molecular genetic testing

Molecular genetic testing analyzes DNA to identify variants relevant to health, including variants that cause, increase the risk of, or influence treatment of disease.

Polymerase chain reaction: A laboratory method that amplifies selected DNA sequences, producing many copies for analysis. Targeted tests often amplify a gene region before checking it for a known variant.
Diagnostic genetic testing: Testing used to identify or confirm a genetic cause in a person with symptoms or clinical findings. It can explain a suspected inherited condition and clarify clinical management.
Genetic variant: A difference in DNA sequence compared with a specified reference sequence. Tests identify variants; interpretation determines whether a difference matters medically.
Karyotyping: A laboratory method that examines chromosome number and large-scale structure under a microscope. It detects chromosomal changes that may be too large or differently structured for sequence-focused tests.
Cascade testing: Targeted genetic testing of relatives after a disease-associated variant is identified in a family. A result can identify relatives who may benefit from testing and preventive care.
Sanger sequencing: A DNA sequencing method that determines the nucleotide order of a relatively short DNA region. It can confirm variants found by broader testing or sequence a targeted region.
Carrier screening: Testing that identifies people carrying variants associated with recessive or X-linked conditions. It can estimate reproductive risk before or during pregnancy.
Mendelian inheritance: Patterns by which single-gene traits pass through families, including dominant, recessive, and X-linked inheritance. Inheritance patterns help assess whether a variant fits a patient's condition and family history.
Fluorescence in situ hybridization: A technique that uses fluorescent probes to detect selected DNA sequences on chromosomes or in cells. It targets specified chromosome regions rather than reading DNA sequence broadly.
Genetic discrimination: Unfair treatment based on actual or perceived genetic information. Genetic results can create concerns about how employers, insurers, or institutions use sensitive data.

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