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Digestive symptoms often include meconium ileus, pancreatic insufficiency resulting in malabsorption and/or failure to thrive, diabetes mellitus, and hepatobiliary disease. Congenital bilateral absence of the vas deferens (CBAVD) is seen in men without pulmonary or digestive symptoms of CF, and results in azoospermia. CBAVD is a significant cause of male infertility.

CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Individuals with mutations in the CFTR gene may also present with milder or atypical symptoms such as pancreatitis or chronic sinusitis.

The incidence of CF is approximately 1 in 2,500 live births among Caucasians and is inherited in an autosomal recessive pattern. The carrier frequency is estimated to be approximately 1 in 25 in the Caucasian population, 1 in 24 in the Ashkenazi Jewish population, 1 in 61 in the African American population, 1 in 58 in the Hispanic population and 1 in 94 in the Asian population.

The current recommendation from the American College of Obstetrics and Gynecologists and the American College of Medical Genetics Subcommittee on Cystic Fibrosis is that screening for cystic fibrosis be offered to all patients, regardless of ethnicity, by a minimum panel of 23 common mutations.

Test Details

This test offers an expanded panel of 142 mutations to account for mutations more common in non-Caucasian ethnic groups, as well as rarer mutations across all ethnic groups.

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We still have a dried blood spot option!

Cystic Fibrosis: CFTR Common Mutation Panel,  screens for the 39 most common CFTR mutations, including the core panel of 23 mutations recommended by ACOG. For more information on CF dry blood spot contact us.

Detection

Next Generation Sequencing: Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient’s clinical/biochemical phenotype.

Analytical Sensitivity: ~99%.

Test Results

Turn Around Time: Results can be expected 15 days from the time the sample is received at the laboratory.

Learn more about why NTD Eurofins has been the laboratory to trust for over 30 years.

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Genetic carrier screening is performed through our sister laboratory, EGL Genetics Eurofins.
EGL Genetics has been providing superior, cutting-edge service for more than 47 years. Their expertise spans common and rare genetic disease testing, genomic variant interpretation, test development, and research. EGL Genetics is a CLIA-certified and CAP-accredited laboratory. They work with clients across the United States and from more than 45 countries to help improve patient diagnosis.

View the complete list of references.

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