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Genzyme this week launched its cystic fibrosis gene-sequencing test. The company said the test can detect approximately 98 percent of the more than 1,200 disease-causing mutations in the CFTR gene.
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 CF testing program includes CFplus, an analysis of 97 mutations that provides high CF detection rates for the pan-ethnic US population in five to eight days. This test is available on blood serum, buccal swab, and mouthwash samples.
CF gene sequencing offers a “more comprehensive” answer in two to three weeks, according to Genzyme, which offers physicians access to board-certified clinical molecular geneticists to discuss test results and genetic counselors for patients to discuss what testing means for them.

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