Canon BioMedical has developed 21 Novallele genotyping assays that can detect changes within the cystic fibrosis transmembrane conductance regulator (CFTR) — the defective gene in cystic fibrosis (CF) patients.
Different types of genetic mutations in the CFTR gene cause diseases. These range from single nucleotide polymorphisms (SNPs, the most common type of genetic variation), like the G551D missense mutation, to small deletions of several base pairs, like the most commonly found ΔF508 mutation. Such mutations cause CF, though the disease’s severity depends on the actual mutation.
Canon BioMedical, based in Melville, New York, provides a broad collection of Research Use Only (RUO) genotyping assays for genetic diseases that enable researchers to study the genetic alterations that cause certain conditions, as well as the human body’s response to therapies. In the case of CF, which affects 70,000 to 100,000 people worldwide, it’s difficult yet important to have fast, reliable and easy ways to study the disease.
The Novallele genotyping assays identify SNPs as well as deletions in the CFTR gene by using polymerase chain reaction followed by high-resolution melting (HRM) analysis. HRM is a powerful technique used in molecular biology to detect genetic mutations, polymorphisms and epigenetic differences in double-stranded DNA samples. All Novallele genotyping assays are functionally verified.
“We are excited to launch these new CFTR assays and add them to our Novallele genotyping assay library,” Akiko Tanaka, CEO of Canon BioMedical, said in a press release. “Cystic fibrosis directly affects the quality of life of thousands of people, and we can only hope that our technologies will contribute to understanding this complex disease and assist with the ongoing therapeutic research.”
Canon BioMedical will showcase its Novallele genotyping library March 21 at the American College of Medical Genetics and Genomics 2017 Annual Meeting in Phoenix.