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 pathologists and clinical laboratory managers know, childrens’ hospitals across the nation are often at the vanguard of using molecular diagnostics and genetic tests to guide diagnosis and treatment of pediatric patients. Having the capability to make fast and accurate diagnoses of genetic conditions gives physicians at these institutions the ability to significantly improve the outcomes of their patients.

A report published by Medpagetoday.com reported the findings of researchers at Children’s Mercy Hospital. (more…)

Clinical Pathology Labs Are on Track to Get New Genetic Test That Screens for 448 Rare Childhood Diseases

Rapid gene sequencing technology will give medical laboratories a new diagnostic tool

Rapidly-evolving molecular diagnostics technology is about to trigger a major expansion in pre-conception genetic testing. In turn, this could benefit clinical laboratories and pathology groups as they begin to offer these genetic tests to help prospective parents screen their DNA for recessive gene mutations that cause 448 deadly childhood diseases in offspring.

This breakthrough medical laboratory test delivers two important benefits. First, as a universal carrier screening test, this multiplex assay greatly expands the number of diseases that can be screened at one time. Second, its next-generation sequencing (NGS) technology dramatically reduces the cost of genetic sequencing. Instead of thousands of dollars, this test only costs about $400!