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What are the different types of genetic tests?
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Testing

What are the different types of genetic tests?

Genetic tests are categorized by the specific biological components they analyze, ranging from individual genes to entire chromosomes and protein activity.

Overview

Health care providers select tests based on suspected conditions and associated genetic variations. If a diagnosis is unclear, tests looking at many genes or chromosomes may be used; if a specific condition is suspected, a more focused test is typically chosen.

Molecular Tests

Molecular tests look for changes in one or more genes using a process called DNA sequencing to determine the order of nucleotides. Types include:

  • Targeted single variant: Looks for a specific known variant in one gene. This is often used for family members of someone with a known condition or by direct-to-consumer companies.
  • Single gene: Analyzes an entire gene to confirm or rule out a specific diagnosis.
  • Gene panel: Examines multiple genes simultaneously, useful when symptoms fit a wide array of conditions or when a condition can be caused by variants in many different genes.
  • Whole exome/whole genome sequencing: Analyzes the bulk of an individual’s DNA. These are typically used when other tests have not provided a diagnosis or the cause is unclear.

Chromosomal Tests

Chromosomal tests analyze whole chromosomes or long lengths of DNA to identify large-scale changes, such as extra or missing chromosomes (trisomy or monosomy), deletions, duplications, or translocations.

Gene Expression Tests

Gene expression tests study mRNA in cells to determine which genes are active. Because mRNA acts as a blueprint for proteins, identifying overexpression or underexpression of certain genes can suggest specific disorders, such as various types of cancer.

Biochemical Tests

Biochemical tests do not analyze DNA directly. Instead, they study the amount or activity level of proteins or enzymes produced by genes. Abnormalities in these substances can indicate underlying DNA changes.

Frequently Asked Questions

Yes. If a specific mutation has been identified in a relative, a targeted single variant test can screen other family members for that exact mutation. This is useful for early detection or for deciding on preventive measures, even when the original diagnosis is still pending.
Whole exome sequencing (WES) reads only the protein‑coding portions of your DNA, which make up about 1–2% of the genome but contain the majority of known disease‑causing mutations. Whole genome sequencing (WGS) reads the entire DNA sequence, including non‑coding regions that can also affect health. WGS is more comprehensive but also more expensive and generates more data that can be harder to interpret.
Chromosomal microarray (CMA) can detect small deletions or duplications (copy number variants) that karyotyping might miss, but it cannot identify balanced translocations, inversions, or low‑level mosaicism. Karyotyping, on the other hand, shows the overall chromosome structure and can detect these larger or balanced changes, but it has lower resolution for small alterations.
Your doctor will consider the specific symptoms you have and how many genes could possibly cause those symptoms. If the symptoms point strongly to one known disorder, a single gene test is often chosen because it is quicker and cheaper. If the symptoms could be caused by several different genes, a gene panel that tests many relevant genes at once is preferred to increase the chance of finding a diagnosis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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