Yesterday, life sciences company Sequenom announced that the Sequenom Center for Molecular Medicine (SCMM) has launched Heredi-T, an advanced new cystic fibrosis carrier screen test. This laboratory-developed test (LDT) is available as a testing service to ordering physicians.
The Heredi-T cystic fibrosis test analyzes 136 mutations and five variants that have been proven clinically relevant in causing cystic fibrosis, and the test integrates disease-causing mutations that have been selected from the Johns Hopkins CFTR2 database (www.cftr2.org). Analyzing nearly six times the number of mutations currently available in other screening methods, the LDT can be performed preconception or at any time during pregnancy with a DNA sample obtained from a buccal swap.
“The Heredi-T test provides significant new clinical value, offering highly reliable information about a patient’s risk of being a cystic fibrosis carrier,” said Sequenom President and COO Bill Welch. “This introduction adds to Sequenom CMM’s leadership in prenatal testing and supports our mission to help healthcare providers and their patients make more informed clinical decisions through the use of advanced genetics.”
It is recommended by the American College of Obstetricians and Gynecologists (ACOG) that all patients receive cystic fibrosis carrier screening. Additional screening consideration should also be given, according to ACOG, to patients with a family history of cystic fibrosis or a partner with a family history of cystic fibrosis; ultrasound findings indicating an increased risk for cystic fibrosis; bowel or dilated loops of bowel; or history of male infertility – as these clinical indicators increase the risk of cystic fibrosis.
Heredi-T cystic fibrosis test results are delivered to the physician within an average of seven business days. A positive test result indicates the patient has one copy of a genetic mutation known to cause cystic fibrosis and should be advised to consider genetic counseling or further testing. A negative test result indicates a low risk for cystic fibrosis but does not completely eliminate the risk, as the test does not screen for all possible cystic fibrosis mutations.
For more information, visit www.sequenom.com
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