Genetic testing

DNA testingDNA analysisDNA testgenetic testgenetic screeningDNA testsDNA typinggenetic testsDNA samplegene testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure.wikipedia
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Down syndrome

Down's syndrometrisomy 21Downs Syndrome
Deviations from the expected number of chromosomes (46 in humans) could lead to a diagnosis of certain genetic conditions such as trisomy 21 (Down syndrome) or monosomy X (Turner syndrome).
Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing.

Turner syndrome

Turner's syndrome45,Xmonosomy X
Deviations from the expected number of chromosomes (46 in humans) could lead to a diagnosis of certain genetic conditions such as trisomy 21 (Down syndrome) or monosomy X (Turner syndrome).
Diagnosis is based on physical signs and genetic testing.

Carrier testing

carrier testtest
Carrier testing is a type of genetic testing that is used to determine if a person is a carrier for a specific autosomal recessive diseases.

Cystic fibrosis

CFCystic fibrosis of the pancreasdisease
There is a variety of DTC tests, ranging from tests for breast cancer alleles to mutations linked to cystic fibrosis.
The condition is diagnosed by a sweat test and genetic testing.

Percutaneous umbilical cord blood sampling

Cordocentesispercutaneous umbilical blood sampling
Percutaneous umbilical cord blood sampling (PUBS), also called cordocentesis, fetal blood sampling, or umbilical vein sampling is a diagnostic genetic test that examines blood from the fetal umbilical cord to detect fetal abnormalities.

Genetic genealogy

genetic ancestryGeneticgenetic genealogist
Genetic genealogy is the use of Genealogical DNA tests, i.e. DNA profiling and DNA testing in combination with traditional genealogical methods, to infer biological relationships between individuals.

Predictive testing

Presymptomatic testingPredictive and presymptomatic testingpresymptomatic
Predictive testing is a form of genetic testing.

Genealogical DNA test

DNA testautosomal DNADNA testing
In 2007, 23andMe was the first company to offer a saliva-based direct-to-consumer genetic testing.

DNA sequencing

DNA sequencesequencesequencing
The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorders, often using DNA sequencing.
This is a form of genetic testing, though some genetic tests may not involve DNA sequencing.


23 and MeDNA tests
In the United States, most DTC genetic test kits are not reviewed by the Food and Drug Administration (FDA), with the exception of a few tests offered by the company 23andMe.
Its saliva-based direct-to-consumer (DTC) genetic testing business was named "Invention of the Year" by Time magazine in 2008.

Coeliac disease

celiac diseaseceliac spruecoeliac
As of 2019, the tests that have received marketing authorization by the FDA include 23andMe's genetic health risk reports for select variants of BRCA1/BRCA2, pharmacogenetic reports that test for selected variants associated with metabolism of certain pharmaceutical compounds, a carrier screening test for Bloom syndrome, and genetic health risk reports for a handful of other medical conditions, such as celiac disease and late-onset Alzheimer's.
Diagnosis is typically made by a combination of blood antibody tests and intestinal biopsies, helped by specific genetic testing.

Incidental medical findings

incidental findingincidental findingsincidentally
Other risks include incidental findings—a discovery of some possible problem found while looking for something else.
Such findings may occur in a variety of settings, including routine medical care, during biomedical research, during post-mortem autopsy, or during genetic testing.


genealogistgenealogicalfamily history, a company providing DTC DNA tests for genealogy purposes, has reportedly allowed the warrantless search of their database by police investigating a murder.
This coupled with easier access to online records and the affordability of DNA tests has both inspired curiosity and allowed those who are curious to easily start investigating their ancestry.


mutationsgenetic mutationmutated
Genetic testing is "the analysis of chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes."
The committee of the Human Genome Variation Society (HGVS) has developed the standard human sequence variant nomenclature, which should be used by researchers and DNA diagnostic centers to generate unambiguous mutation descriptions.

Genetic predisposition

predispositiongenetically predisposedpredispose
With regard to genetic testing and information in general, legislation in the United States called the Genetic Information Nondiscrimination Act prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future.
Genetic testing is able to identify individuals who are genetically predisposed to certain diseases.


Genetic testing for individuals at high-risk of certain cancers is recommended by unofficial groups.

Buccal swab

buccal smearbuccal smearscheek swab
For example, a medical procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek.
Buccal swabs are a relatively non-invasive way to collect DNA samples for testing.

Genetic privacy

genetic datagenetic information privacyprivacy of genetic information
Possible benefits of DTC testing are the accessibility of tests to consumers, promotion of proactive healthcare, and the privacy of genetic information.
There is a controversy regarding the responsibility that a DNA testing company has to ensure that leaks and breaches do not happen.

Elective genetic and genomic testing

An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome.

Gene theft

creations, inventionsidentify an individual

Genetic discrimination

The possibility of genetic discrimination in employment or insurance is also a concern.
Upon birth, a number of genetically-induced characteristics are calculated: physical and intellectual capacity, life expectancy, probable successful diseases, and likely causes of death, all determined via blood samples and genetic testing.

Non-paternity event

false paternityfalse-paternitymisattributed fatherhood
Where there is uncertainty, the most reliable technique for establishing paternity is genetic testing; however, there is still a risk of error due to the potential for gene mutations or scoring errors.


Developments in genetic, genomic, and reproductive technologies at the end of the 20th century have raised numerous questions regarding the ethical status of eugenics, effectively creating a [[History of eugenics#Modern eugenics, genetic engineering, and ethical re-evaluation|resurgence of interest]] in the subject.