GRAND RAPIDS, Mich., Dec. 21, 2016 /PRNewswire/ -- NxGen MDx recently published a white paper that details the advantages of next-generation (NGS) based full-gene carrier screening for cystic fibrosis (CF).
According to ACOG guidelines, testing for CF should be done for 23 pathogenic variants. Genotyping, which detects a limited number of variants, is commonly used for carrier screening. NxGen is one of the first companies to routinely offer full-gene sequencing for CF carrier screening, which looks at the entire gene and can detect all variants regardless of the individual’s genetic heritage.
Full-gene sequencing allows for an analysis of variants that genotyping would have missed; thus, the residual risk is many times lower than genotyping.
“With the U.S. becoming increasingly culturally diverse, we feel as an organization that only looking at a limited number of variants is no longer adequate,” says Jonathan Karnes, VP of Scientific Operations at NxGen MDx. “Full-gene sequencing looks at the entire gene, rather than just a section of it. As a result, the sequencing is ethnicity-agnostic.”
“As an organization, we are committed to full-gene sequencing, so we’ve incorporated it into all our screens and panels,” says Alan Mack, CEO of NxGen MDx.
To read NxGen’s white paper on full-gene CF carrier screening, please visit nxgenmdx.com.
About NxGen MDx
NxGen MDx LLC is a leading clinical molecular diagnostics laboratory delivering highly accurate and precise genetic screening to detect genetic diseases or abnormalities to help guide family planning decisions for couples and their healthcare providers. Unlike other laboratories, NxGen MDx’s technology examines the entire gene rather than parts of the gene, giving families a comprehensive assessment of their true risk. NxGen MDx is located in Grand Rapids, Michigan. To learn more, visit the company’s website at www.nxgenmdx.com.
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SOURCE NxGen MDx
