MDL Provides New Prenatal Cystic Fibrosis Testing

Patrícia Silva, PhD avatar

by Patrícia Silva, PhD |

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Prenatal Cystic Fibrosis Testing

Medical Diagnostic LaboratoriesA novel Cystic Fibrosis testing technology that features next-generation DNA sequencing platforms has been launched by Medical Diagnostic Laboratories, L.L.C. Certified by the Clinical Laboratory Improvement Amendments (CLIA) and accredited by the College of American Pathologists (CAP), MDL specializes in complex, state-of-the-art, automated DNA-based molecular analyses.

The MDL Cystic Fibrosis Core Test is a CFTR gene sequence exam provided by MDL, is non-invasive and can test specimens through mouthwash samples, cervico-vaginal swabs, or blood samples from pregnant women. It uses breakthrough technology to provide a series of CF testing through high-accuracy genetic testing, and is able to screen the 23 major mutations recommended by the ACOG and the ACMG for the disease.

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Since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989, which plays a crucial role in the development of the disease, more than 1,800 different mutations have been discovered by scientists. Therefore, the test not only analyzes the disease’s 23 major mutations, but also the 9 that are recommended by the U.S. Food and Drug Administration for determining the efficiency of Ivacaftor (Kalydeco).

Prenatal Cystic Fibrosis TestingMDL also provides Cystic Fibrosis Site Specific Analysis screens for identified CF mutations between family members, since CF is a genetically inherited disease that affects the respiratory, gastrointestinal, and reproductive function. MDL has created a division, the Institute for Biomarker Research, as a facility especially dedicated to the development, validation, and commercialization of innovative diagnostic testings for clinical practice, in which this one is included.

Therefore, the National Institute of Health (NIH), the American College of Medical Genetics (ACMG), and the American College of Obstetricians and Gynecologists (ACOG) advise that all pregnant women should receive CF carrier screening, which has already been included in the national newborn screening panels.

Early detection is crucial in the treatment of cystic fibrosis, and therefore, every year, millions of babies undergo newborn screening for the diagnosis of genetic, metabolic, and endocrine disorders, as well as hearing impairment. In order to improve this need, the Pennsylvania Governor Tom Corbett recently signed House Bill 1654, detailing the expansion of mandatory newborn screening in the State.

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