Whole-Genome Sequencing, Aided by Bioinformatics Analytical Software, Offers Quick, Accurate Test for Diagnosing Diseases Caused by Single-Gene Mutations

A new approach to genetic testing of critically ill children, developed by researchers at Children’s Mercy Hospital, can be a road map other medical laboratories can follow   In Kansas City, a medical team at Children’s Mercy Hospital has demonstrated that rapid whole human genome sequencing, when combined with interpretative software, can return clinically actionable answers quickly enough to be of value to physicians who are diagnosing patients showing symptoms of genetic conditions. As many...

Is Whole-genome Sequencing Reaching a Tipping Point for Clinical Pathology Laboratories?

High-Density Sequencing Chips Will Soon Be Able To Sequence Five Million SNPs Rapid gene sequencing is catching the interest of progressive anatomic pathologists. These medical laboratory professionals are interested in using rapid gene sequencing technology to allow them to study tens and hundreds of genes on a patient specimen. The technologies used in rapid gene sequencing are being developed and improved by a handful of biotech companies who are racing each other be first to deliver...