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Genetic tests are broadly categorized based on their purpose:
Diagnostic testing – confirms or rules out a suspected genetic condition in a symptomatic individual.
Carrier screening – determines if a person carries a gene variant for a recessive condition that could be passed to children, even if they show no symptoms themselves.
Predictive or presymptomatic testing – identifies risk for conditions that may develop later in life (e.g., hereditary cancers, neurodegenerative disorders) in individuals with a family history but no current symptoms.
Prenatal testing – performed during pregnancy to assess genetic conditions in the fetus (includes NIPT, CVS, and amniocentesis-based testing).
Newborn screening – tests infants shortly after birth for treatable genetic and metabolic conditions.
Pharmacogenomic testing – evaluates how a person’s genetic makeup affects their response to specific medications, helping guide drug and dosage choices.
Pre-implantation genetic testing (PGT) – used alongside IVF to screen embryos for genetic conditions before implantation.
Somatic/tumor genetic testing – analyzes genetic changes within tumor cells (not inherited) to guide cancer treatment decisions.
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