New Prenatal Cystic Fibrosis Tests Improve CFTR Screening Options
By LabMedica International staff writers Posted on 03 Nov 2014 |
Image: The cystic fibrosis transmembrane conductance regulator (CFTR) channel protein controls the flow of H2O and Cl- ions into and out of lung cells. When CFTR is working correctly (Panel 1), these ions flow in and out. However, when CFTR is malfunctioning (as in Panel 2), these ions cannot flow out of the cell due to channel blockage, leading to the buildup of thick mucus in the lungs characteristic of cystic fibrosis (Photo courtesy of Wikimedia (user Lbudd14)).
A new set of prenatal cystic fibrosis (CF) screening tests offer flexibility and comprehensiveness in screening for important CFTR gene variants.
Through its Institute for Biomarker Research division, Medical Diagnostic Laboratories, LLC (MDL; Hamilton, NJ, USA) is now offering a new CF testing option that utilizes cutting-edge technology, including next-generation sequencing (NGS) platforms. MDL, a member of the Genesis Biotechnology Group, is a CLIA-certified, CAP-accredited laboratory that specializes in high-complexity, state-of-the-art, automated DNA-based molecular analyses.
More than 1,800 different mutations have been discovered since the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for CF (also called mucoviscidosis) was discovered in 1989. Offering CF carrier screening to all pregnant women as well as for preconception evaluation is now commonplace and formally recommended. Newborn screening for CF does not replace maternal-carrier screening. Screening is most efficacious in the non-Hispanic Caucasian and Ashkenazi Jewish populations.
Utilizing updated technologies, including NGS, MDL offers a diverse panel with high accuracy genetic testing that provides noninvasive, easy specimen collection methods for CF testing using mouthwash samples or cervico-vaginal swabs. Blood is also an acceptable source.
The MDL "Cystic Fibrosis Core Test" is a CFTR gene sequence analysis that screens for the 23 major mutations recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG). The MDL "Cystic Fibrosis Comprehensive Test" is an expanded analysis that screens for 191 CFTR gene variants, including the recommended 23 major mutations and the 9 mutations recommended by the US Food and Drug Association (FDA) for determining Ivacaftor (Kalydeco) treatment efficiency. The MDL "Cystic Fibrosis Site Specific Analysis" screens for known family CF mutations previously identified in blood relatives.
Related Links:
Medical Diagnostic Laboratories
Through its Institute for Biomarker Research division, Medical Diagnostic Laboratories, LLC (MDL; Hamilton, NJ, USA) is now offering a new CF testing option that utilizes cutting-edge technology, including next-generation sequencing (NGS) platforms. MDL, a member of the Genesis Biotechnology Group, is a CLIA-certified, CAP-accredited laboratory that specializes in high-complexity, state-of-the-art, automated DNA-based molecular analyses.
More than 1,800 different mutations have been discovered since the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for CF (also called mucoviscidosis) was discovered in 1989. Offering CF carrier screening to all pregnant women as well as for preconception evaluation is now commonplace and formally recommended. Newborn screening for CF does not replace maternal-carrier screening. Screening is most efficacious in the non-Hispanic Caucasian and Ashkenazi Jewish populations.
Utilizing updated technologies, including NGS, MDL offers a diverse panel with high accuracy genetic testing that provides noninvasive, easy specimen collection methods for CF testing using mouthwash samples or cervico-vaginal swabs. Blood is also an acceptable source.
The MDL "Cystic Fibrosis Core Test" is a CFTR gene sequence analysis that screens for the 23 major mutations recommended by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG). The MDL "Cystic Fibrosis Comprehensive Test" is an expanded analysis that screens for 191 CFTR gene variants, including the recommended 23 major mutations and the 9 mutations recommended by the US Food and Drug Association (FDA) for determining Ivacaftor (Kalydeco) treatment efficiency. The MDL "Cystic Fibrosis Site Specific Analysis" screens for known family CF mutations previously identified in blood relatives.
Related Links:
Medical Diagnostic Laboratories
Latest Molecular Diagnostics News
- New DNA Origami Technique to Advance Disease Diagnosis
- Ultrasound-Aided Blood Testing Detects Cancer Biomarkers from Cells
- New Respiratory Syndromic Testing Panel Provides Fast and Accurate Results
- New Synthetic Biomarker Technology Differentiates Between Prior Zika and Dengue Infections
- Novel Biomarkers to Improve Diagnosis of Renal Cell Carcinoma Subtypes
- RNA-Powered Molecular Test to Help Combat Early-Age Onset Colorectal Cancer
- Advanced Blood Test to Spot Alzheimer's Before Progression to Dementia
- Multi-Omic Noninvasive Urine-Based DNA Test to Improve Bladder Cancer Detection
- First of Its Kind NGS Assay for Precise Detection of BCR::ABL1 Fusion Gene to Enable Personalized Leukemia Treatment
- Urine Test to Revolutionize Lyme Disease Testing
- Simple Blood Test Could Enable First Quantitative Assessments for Future Cerebrovascular Disease
- New Genetic Testing Procedure Combined With Ultrasound Detects High Cardiovascular Risk
- Blood Samples Enhance B-Cell Lymphoma Diagnostics and Prognosis
- Blood Test Predicts Knee Osteoarthritis Eight Years Before Signs Appears On X-Rays
- Blood Test Accurately Predicts Lung Cancer Risk and Reduces Need for Scans
- Unique Autoantibody Signature to Help Diagnose Multiple Sclerosis Years before Symptom Onset