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.wikipedia
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Genetic testing

DNA testingDNA analysisDNA test
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.

Dominance (genetics)

autosomal recessiverecessiveautosomal dominant
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.

Gene

genesnumber of genesgene sequence
Genes come in pairs; one from the mother and one from the father.

Genetic disorder

genetic diseasegenetic disordersgenetic diseases
There are hundreds of recessive genetic disorders, most of which are very rare.

Ethnic group

ethnicityethnicethnic groups
Certain genetic disorders tend to be more common in people of a particular ethnicity.

African Americans

African AmericanAfrican-Americanblack
For example, people of African American ethnicity have a much higher likelihood of being a carrier for the autosomal recessive disorder called sickle cell anemia.

Sickle cell disease

sickle cell anemiasickle-cell diseasesickle-cell anemia
For example, people of African American ethnicity have a much higher likelihood of being a carrier for the autosomal recessive disorder called sickle cell anemia.

Ashkenazi Jews

AshkenaziAshkenazi JewishAshkenazic
People of one ethnicity in particular, Ashkenazi Jewish, have a tendency to be carriers for a wide variety of recessive genetic disorders.

Cystic fibrosis

CFCystic fibrosis of the pancreasdisease
This list includes: cystic fibrosis, fragile X syndrome, and spinal muscular atrophy.

Fragile X syndrome

Fragile Xfragile-X syndromeFragile-X
This list includes: cystic fibrosis, fragile X syndrome, and spinal muscular atrophy.

Spinal muscular atrophy

Werdnig–Hoffmann diseaseSMAKugelberg–Welander disease
This list includes: cystic fibrosis, fragile X syndrome, and spinal muscular atrophy.

Blood test

blood testsbloodblood testing
Carrier testing is most often done through a simple blood test.

Gene product

gene productsproduct of a gene product
An alternative method of testing, available for some conditions, analyzes gene products that are usually present in a person that keeps the genetic disorder from occurring.

Preimplantation genetic diagnosis

preimplantation genetic screeningpre-implantation genetic diagnosisPGD
IVF with preimplantation genetic diagnosis may be considered, to remove the risk of having an affected child.

Index of genetics articles

List of genetics-related topicsIndex of genetic engineering articlesGenetic engineering topics

Ohad Birk

He also implemented his scientific findings in massive carrier testing programs, conducive to 30% reduction in infant mortality rate in the Bedouin community, as well as near-eradication of the most common severe hereditary diseases in Sephardic Jews.

23andMe

23 and MeDNA tests
In 2014, 23andMe submitted a 510(k) application to the FDA to market a carrier test for Bloom syndrome, which included data showing that 23andme's results were consistent and reliable and that the saliva collection kit and instructions were easy enough for people to use without making mistakes that might affect their results, and included citations to the scientific literature showing that the specific tests that 23andMe offered were associated with Blooms.

Dopamine transporter deficiency syndrome

Once a SLC6A3 pathogenic variant is identified within an affected family member, carrier testing for at-risk relatives and prenatal testing or preimplantation genetic diagnosis for pregnancies can be options considered for genetic counseling.

Elective genetic and genomic testing

Carrier testing is used to identify people who carry one copy of a gene change (also referred to as a variant or mutation) that, when present in two copies, causes a genetic disorder.

Predictive medicine

predictiveTheranostic probespredictive test
*Carrier testing: Carrier testing is done to identify people who carry one copy of a gene mutation that, when present in both copies, causes a genetic disorder.

Eugenics

eugenicisteugeniceugenicists
The heterozygote test is used for the early detection of recessive hereditary diseases, allowing for couples to determine if they are at risk of passing genetic defects to a future child.