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  2. Carrier testing - Wikipedia

    en.wikipedia.org/wiki/Carrier_testing

    Carrier testing is a type of genetic testing that is used to determine if a person is a carrier for specific autosomal recessive diseases. [1] 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.

  3. Genetic testing - Wikipedia

    en.wikipedia.org/wiki/Genetic_testing

    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 person or charging that person higher premiums based solely on a genetic predisposition to developing a disease in ...

  4. Elective genetic and genomic testing - Wikipedia

    en.wikipedia.org/wiki/Elective_genetic_and...

    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. Carrier testing is typically offered to individuals who are considering pregnancy or are already pregnant, have a family history of a specific genetic disorder ...

  5. Hereditary carrier - Wikipedia

    en.wikipedia.org/wiki/Hereditary_carrier

    A hereditary carrier (genetic carrier or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait.

  6. X-linked genetic disease - Wikipedia

    en.wikipedia.org/wiki/X-linked_genetic_disease

    Genetic screening including carrier screening, prenatal screening and newborn screening could be done on individuals for early detection of genetic defects. As there are many X-linked genetic diseases, the pathology and mechanism of each varies significantly, there is no clear-cut diagnosis and treatment for all diseases.

  7. Predictive medicine - Wikipedia

    en.wikipedia.org/wiki/Predictive_medicine

    This type of testing is offered to individuals who have genetic disorder in their family history or to people in ethnic groups with increased risk of certain genetic diseases. If both parents are tested, carrier testing can provide information about a couple's risk of having a child with a genetic disorder. Diagnostic testing: Diagnostic ...

  8. Medium-chain acyl-coenzyme A dehydrogenase deficiency

    en.wikipedia.org/wiki/Medium-chain_acyl-coenzyme...

    [2] [3] With the advent of expanded newborn screening, some mothers have been identified with MCADD after their infants had positive newborn screens for low carnitine levels. [ 4 ] The enzyme medium-chain acyl-CoA dehydrogenase ( MCAD ) is responsible for the dehydrogenation step of fatty acids with chain lengths between 6 and 12 carbons as ...

  9. Galactosialidosis - Wikipedia

    en.wikipedia.org/wiki/Galactosialidosis

    Because the disease is genetically inherited, the only prevention available for this condition is through genetic carrier screening that can detect the presence of a recessive, mutated CTSA gene in parents before they decide to have children. If both parents are found to be carriers of the mutated gene, there will be a 25% possibility of the ...