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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. Genomic Health - Wikipedia

    en.wikipedia.org/wiki/Genomic_Health

    Genomic Health also started a subsidiary in 2010, Invitae, with the goal of aggregating multiple genetics tests. Invitae was spun off in 2012. [9] The company expanded with international headquarters in Geneva Switzerland and UK headquarters in London in 2011. [10]

  4. Invitae - Wikipedia

    en.wikipedia.org/wiki/Invitae

    Invitae Corp. is a biotechnology company that was created as a subsidiary of Genomic Health in 2010 and then spun-off in 2012. [2] In 2017, Invitae acquired Good Start Genetics and CombiMatrix. [3] [4] In 2020, Invitae announced the acquisition of ArcherDX for $1.4 billion. [5]

  5. Pseudodeficiency alleles - Wikipedia

    en.wikipedia.org/wiki/Pseudodeficiency_alleles

    Enzyme assay testing was especially effective among Ashkenazi Jews because fewer pseudodeficiency alleles are found in this population, as compared with the general population. Carrier screening has not been as reliable in the general population. [1] [2] Metachromatic leukodystrophy. Low arylsulphatase A activity can occur in healthy ...

  6. List of disorders included in newborn screening programs

    en.wikipedia.org/wiki/List_of_disorders_included...

    The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders

  7. Republican-led US House to vote on limits for transgender ...

    www.aol.com/news/republican-led-us-house-vote...

    The U.S. House of Representatives plans to vote on Tuesday on a bill supported by Republican President-elect Donald Trump to essentially ban transgender girls and women from competing in school ...

  8. Sonic hedgehog protein - Wikipedia

    en.wikipedia.org/wiki/Sonic_hedgehog_protein

    Mutations in the human sonic hedgehog gene SHH cause holoprosencephaly type 3 HPE3, as a result of the loss of the ventral midline. The sonic hedgehog transcription pathway has also been linked to the formation of specific kinds of cancerous tumors, including the embryonic cerebellar tumor [ 30 ] and medulloblastoma , [ 31 ] as well as the ...

  9. NYC woman murdered 33 years ago finally ID’d as ... - AOL

    www.aol.com/news/nyc-woman-murdered-33-years...

    A woman who was brutally murdered in Queens more than three decades ago has finally been identified - through advanced DNA testing - as a mom who went missing soon after celebrating her daughter's ...