Genzyme Launches Cystic Fibrosis Gene Sequencing Test
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Genzyme Corporation has announced the commercial availability of cystic fibrosis (CF) gene sequencing, a diagnostic test that can detect approximately 98 percent of the 1,200 disease-causing mutations in the CFTR gene.
Mutations in the CFTR gene can cause CF, as well as other health issues such as pancreatitis and male infertility.
"Our new test will help physicians identify a greater number of patients that are impacted by CFTR-related diseases, and who otherwise may not have been diagnosed," said Mara Aspinall, president of Genzyme Genetics, the business unit of Genzyme Corp.
"When you combine our CF gene sequencing test with access to our knowledgeable geneticists, we help physicians provide better, more informed care for their patients."
Most genetic CF testing is performed by mutation panels, which detect the most common CFTR mutations.
CF gene sequencing detects the most common mutations, as well as less common mutations not included in the available mutation panels.
Genzyme's full CF gene sequencing test is a direct sequence analysis of the CFTR gene.
Partial CFTR gene sequencing is also available for families with known mutations not detectable in a general screening assay.
The test can be performed on conventional samples, such as blood and prenatal specimens including amniotic fluid and chorionic villi sampling (CVS).
In addition, Genzyme offers the test on blood spot samples, a convenient alternative that collects blood from a fingerstick, and does not require phlebotomy services.
Genzyme Genetics offers a CF testing program that offers informative results and access to genetics expertise.
The program includes CFplus™, an analysis of 97 mutations that provides high CF detection rates for the pan-ethnic U.S. population in just five to eight days.
This test is available on blood serum, cheekbrush and mouthwash samples. CF gene sequencing offers answer in two to three weeks.