Genealogical DNA test

DNA testDNA testinggenealogical DNA testing
List of DNA tested mummies. MyHeritage. 23andMe.

Genetic discrimination

Direct-to-consumer genetic testing was first offered in 1997 by GeneTree, a now defunct family history website. These tests are easily accessible on the market and popularized by companies such as 23andMe and These genetic kits are expensive and disproportionately serve wealthy individuals. As a result, when the data collected from testing is sold to research companies, it represents a biased sample of the population. The Food and Drug Administration additionally halted all 23andMe marketing in 2013 over unsubstantiated claims 23andMe made regarding disease diagnosis and prevention.

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. This kind of testing is used most often by couples who are considering becoming pregnant to determine the risks of their child inheriting one of these genetic disorders. Genes come in pairs; one from the mother and one from the father. A carrier is a person who inherited one abnormal gene from one of their parents. Carriers often show no symptoms of the genetic disorder that they carry an abnormal gene for. Usually the only time a person finds out that they are a carrier for a specific genetic disorder is when they have an affected child.

Alpha 1-antitrypsin deficiency

alpha-1 antitrypsin deficiencyalpha-1-antitrypsin deficiencyα 1 -antitrypsin deficiency
The diagnosis is suspected based on symptoms and confirmed by blood tests or genetic tests. Treatment of lung disease may include bronchodilators, inhaled steroids, and when infections occur antibiotics. Intravenous infusions of the A1AT protein or in severe disease lung transplantation may also be recommended. In those with severe liver disease liver transplantation may be an option. Avoiding smoking is recommended. Vaccination for influenza, pneumococcus, and hepatitis is also recommended. Life expectancy among those who smoke is 50 years old while among those who do not smoke it is almost normal. The condition affects about 1 in 2,500 people of European descent.

Medical test

diagnostic testdiagnostic testsin vitro diagnostics
Genetic testing. Blood Glucose testing. Liver function testing. Calcium testing. Testing for electrolytes in the blood, such as Sodium, Potassium, Creatinine, and Urea. Blood tests. Urine tests, including naked eye exam of the urine. Stool tests, including naked eye exam of the feces. Sputum (phlegm), including naked eye exam of the sputum. Accuracy of a laboratory test is its correspondence with the true value. Accuracy is maximized by calibrating laboratory equipment with reference material and by participating in external quality control programs. Precision of a test is its reproducibility when it is repeated on the same sample.


mutationsgenetic mutationmutated
However, given that many mutations have effects too small to be detected and that mutagenesis experiments can detect only mutations of moderately large effect; DNA sequence data analysis can provide valuable information about these mutations. * Molecular sequence analysis: With rapid development of DNA sequencing technology, an enormous amount of DNA sequence data is available and even more is forthcoming in the future. Various methods have been developed to infer the DFE from DNA sequence data. By examining DNA sequence differences within and between species, we are able to infer various characteristics of the DFE for neutral, deleterious and advantageous mutations.

AncestryDNA offers a direct-to-consumer genealogical DNA test. Consumers provide a sample of their DNA to the company for analysis. AncestryDNA then uses DNA sequences to infer family relationships with other Ancestry DNA users and to provide what it calls an "ethnicity estimate". Previously, also offered paternal Y-chromosome DNA and maternal mitochondrial DNA tests, but those were discontinued in June 2014. The company describes the technical process of testing in a scientific white paper. In November 2018 the company claimed that, to date they had sold more than 14 million DNA kits to customers.

Family Tree DNA

Genealogical DNA test. Genetic genealogy. Human mitochondrial genetics. Phylogenetic tree. Short tandem repeat. Single-nucleotide polymorphism. Test types. DNA microarray. DNA sequencing. Polymerase chain reaction. Sanger sequencing. Test manufactures. Affymetrix. Applied Biosystems. Illumina. Genetic genealogy and anthro-genetics companies. 23andMe. deCODEme. GeneTree. Genographic Project. International Society of Genetic Genealogy (ISOGG). Sorenson Molecular Genealogy Foundation (SMGF).

Human genome

genomehuman DNAhuman geneticist
The results of the Human Genome Project are likely to provide increased availability of genetic testing for gene-related disorders, and eventually improved treatment. Parents can be screened for hereditary conditions and counselled on the consequences, the probability it will be inherited, and how to avoid or ameliorate it in their offspring. As noted above, there are many different kinds of DNA sequence variation, ranging from complete extra or missing chromosomes down to single nucleotide changes.

Whole genome sequencing

genome sequencingsequencedfull genome sequencing
This potential use of genome sequencing is highly controversial, as it runs counter to established ethical norms for predictive genetic testing of asymptomatic minors that have been well established in the fields of medical genetics and genetic counseling. The traditional guidelines for genetic testing have been developed over the course of several decades since it first became possible to test for genetic markers associated with disease, prior to the advent of cost-effective, comprehensive genetic screening.


deoxyribonucleic aciddouble-stranded DNAdsDNA
The DNA sequence may be aligned with other DNA sequences to identify homologous sequences and locate the specific mutations that make them distinct. These techniques, especially multiple sequence alignment, are used in studying phylogenetic relationships and protein function. Data sets representing entire genomes' worth of DNA sequences, such as those produced by the Human Genome Project, are difficult to use without the annotations that identify the locations of genes and regulatory elements on each chromosome.


Before a cell divides through mitosis, the DNA is copied, so that each of the resulting two cells will inherit the DNA sequence. A portion of a DNA molecule that specifies a single functional unit is called a gene; different genes have different sequences of bases. Within cells, the long strands of DNA form condensed structures called chromosomes. Organisms inherit genetic material from their parents in the form of homologous chromosomes, containing a unique combination of DNA sequences that code for genes. The specific location of a DNA sequence within a chromosome is known as a locus.

Genetic disorder

genetic diseasegenetic disordersgenetic diseases
The sons of a man with an X-linked dominant disorder will all be unaffected (since they receive their father's Y chromosome), and his daughters will all inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected fetus with each pregnancy, although in cases such as incontinentia pigmenti, only female offspring are generally viable. In addition, although these conditions do not alter fertility per se, individuals with Rett syndrome or Aicardi syndrome rarely reproduce. X-linked recessive conditions are also caused by mutations in genes on the X chromosome.

Breast cancer

breastbreast carcinomacancer
DNA testing of various types including DNA microarrays have compared normal cells to breast cancer cells. The specific changes in a particular breast cancer can be used to classify the cancer in several ways, and may assist in choosing the most effective treatment for that DNA type. Women can reduce their risk of breast cancer by maintaining a healthy weight, reducing alcohol use, increasing physical activity, and breast-feeding. These modifications might prevent 38% of breast cancers in the US, 42% in the UK, 28% in Brazil and 20% in China. The benefits with moderate exercise such as brisk walking are seen at all age groups including postmenopausal women.

Food and Drug Administration

FDAU.S. Food and Drug AdministrationUnited States Food and Drug Administration
The Food and Drug Administration (FDA or USFDA) is a federal agency of the United States Department of Health and Human Services, one of the United States federal executive departments. The FDA is responsible for protecting and promoting public health through the control and supervision of food safety, tobacco products, dietary supplements, prescription and over-the-counter pharmaceutical drugs (medications), vaccines, biopharmaceuticals, blood transfusions, medical devices, electromagnetic radiation emitting devices (ERED), cosmetics, animal foods & feed and veterinary products.

Prostate cancer

prostatehormone-refractory prostate cancermetastatic prostate cancer
Loss of cancer suppressor genes, early in the prostatic carcinogenesis, have been localized to chromosomes 8p, 10q, 13q, and 16q. P53 mutations in the primary prostate cancer are relatively low and are more frequently seen in metastatic settings, hence, p53 mutations are a late event in the pathology of prostate cancer. Other tumor suppressor genes that are thought to play a role in prostate cancer include PTEN (gene) and KAI1. "Up to 70 percent of men with prostate cancer have lost one copy of the PTEN gene at the time of diagnosis" Relative frequency of loss of E-cadherin and CD44 has also been observed.

BRCA mutation

BRCABRCA'' mutationBRCA1/2
Why BRCA1 and BRCA2 mutations lead preferentially to cancers of the breast and ovary is not known, but lack of BRCA1 function seems to lead to non-functional X-chromosome inactivation. Not all mutations are high-risk; some appear to be harmless variations. The cancer risk associated with any given mutation varies significantly and depends on the exact type and location of the mutation and possibly other individual factors. Mutations can be inherited from either parent and may be passed on to both sons and daughters. Each child of a genetic carrier, regardless of sex, has a 50% chance of inheriting the mutated gene from the parent who carries the mutation.

Crohn's disease

Crohn’s diseasechronCrohn
Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any part of the gastrointestinal tract from mouth to anus. Signs and symptoms often include abdominal pain, diarrhea (which may be bloody if inflammation is severe), fever, and weight loss. Other complications may occur outside the gastrointestinal tract and include anemia, skin rashes, arthritis, inflammation of the eye, and tiredness. The skin rashes may be due to infections as well as pyoderma gangrenosum or erythema nodosum. Bowel obstruction may occur as a complication of chronic inflammation, and those with the disease are at greater risk of bowel cancer.

Informed consent

consentconsensualprior informed consent
Informed consent is a process for getting permission before conducting a healthcare intervention on a person, or for disclosing personal information. A health care provider may ask a patient to consent to receive therapy before providing it, or a clinical researcher may ask a research participant before enrolling that person into a clinical trial. Informed consent is collected according to guidelines from the fields of medical ethics and research ethics.

Genographic Project

Geno 2.0 Next GenerationGenographicNational Geographic Geno 2.0
Genealogical DNA test. Genetic diversity. Human genetics. Human genetic variation. Human migration. Human mitochondrial DNA haplogroups. Human Y-chromosome DNA haplogroups. Mitochondrial Eve. Y-chromosomal Adam. Y-chromosome haplogroups in populations of the world. Personal Genomics. Genographic Project official site at National Geographic. Helix. Arizona Research Laboratories (ARL). Waitt Family Foundation. "Indigenous Peoples Oppose National Geographic", Indigenous Peoples Council on Biocolonialism, 13 April 2005. "Tracking the Truth", DB2 Magazine (IBM), information about IBM's role in the project. December 2006. Genographic Success Stories.


Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a child's parentage (genetic mother and father) or in general a person's ancestry. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. Genetic testing identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders.