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Posted by on Jan 25, 2011 in Foundation NewsLine |

New Test Promises to Find Fatal Diseases Before Conception

Test Could Determine if Parents Are Carriers for Genetic Diseases

A new DNA test has been developed to identify carriers of 580 of the most severe inherited childhood diseases. Announced in the journal Science in Translational Medicine, the test uses genetic sequencing to identify recessive mutations.

The new test could be used before a couple decides to become parents. Currently, preconception testing is recommended for just a few diseases, such as Tay-Sachs and cystic fibrosis, and can cost as much as $2,000.

According to, this new carrier screening may cost less than $400, and may become available in the near future. Clinical work will be done at Children’s Mercy Hospital in Kansas City, Missouri.

The test will likely be a blood test and later a simple swab of the cheek. Egg and sperm banks may be the first industry to adopt the testing to screen potential donors.

For a link to more information, including the ABC News article, visit the NNPDF’s Latest Research page.

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