Test category · Laboratory

Genetic & molecular

Tests of chromosomes, genes and variants, from a karyotype to whole-genome sequencing, and their use in inherited disease, cancer and drug response.

Tests with a page

Medical test

Genetic testing

Concepts covered by those pages

Next-generation sequencing NGSTargeted gene panelWhole-exome sequencing WESWhole-genome sequencing WGSPharmacogenomic testing PGxCarrier screeningHereditary cancer panelTumour molecular profiling

Also in this category: catalogued concepts

Canonical test concepts of this category that do not yet have their own page. They are listed so that the taxonomy is complete and searchable; a page is written only when it can meet the quality standard.

  • Karyotype · also: chromosome analysis Genetic / molecular
  • Fluorescence in situ hybridisation (FISH) Genetic / molecular
  • Chromosomal microarray (CMA) · also: array CGH Genetic / molecular
  • Polymerase chain reaction (PCR) Genetic / molecular
  • Reverse-transcription PCR (RT-PCR) Genetic / molecular
  • Quantitative PCR (qPCR) · also: real-time PCR Genetic / molecular
  • Digital PCR (dPCR) Genetic / molecular
  • Sanger sequencing Genetic / molecular
  • Mitochondrial DNA testing (mtDNA) Genetic / molecular
  • Copy-number analysis (CNV) Genetic / molecular
  • Deletion/duplication testing · also: MLPA Genetic / molecular
  • Repeat-expansion testing · also: triplet repeat testing Genetic / molecular
  • Methylation testing Genetic / molecular
  • HLA typing · also: tissue typing Genetic / molecular
  • Prenatal genetic testing Genetic / molecular
  • Newborn genetic screening · also: newborn blood spot screening, heel prick test Genetic / molecular
  • Hereditary cardiac panel Genetic / molecular
  • Hereditary neurological panel Genetic / molecular
  • Rare-disease panel Genetic / molecular
  • Liquid biopsy Genetic / molecular
  • Circulating tumour DNA (ctDNA) · also: circulating tumor DNA Genetic / molecular
  • Molecular minimal residual disease Genetic / molecular
Educational content. A test category groups what tests exist and what they are for. It cannot say which test a person needs: that depends on the question a clinician is asking.