Children’s Mercy Hospitals and Clinics in Kansas City, Missouri, has announced the availability of a cost-effective, broad genetic screen for use in the diagnosis of paediatric genetic diseases.
The TaGSCAN (Targeted Gene Sequencing and Custom Analysis) test is a targeted screening panel for more than 750 diseases that are the result of a single-gene defect, including muscular dystrophy, cystic fibrosis, polycystic kidney disease (PKD), and many others that are challenging to diagnose or for which no test has been available.
TaGSCAN was developed by the Center for Pediatric Genomic Medicine at Children’s Mercy Hospitals and Clinics.
TaGSCAN performs a symptom-based analysis to diagnose genetic diseases using sophiscated gene sequencing technology and proprietary software.
The highly sensitive test is performed on DNA, which is extracted from a patient’s blood sample.
Children’s Mercy Center for Pediatric Genomic Medicine director Stephen Kingsmore said the hospital is proud to offer a robust genetic test to children and families, many of whom have spent years seeking answers.
"With TaGSCAN, thousands of children will be able to receive faster diagnoses that enable better decision-making and prevent patients from being subjected to unnecessary treatments," Kingsmore added.
TaGSCAN is available to patients whose symptoms suggest a hereditary disease, as well as patients who have proved difficult to diagnose.
The test is capable of delivering the results in six to eight weeks, and costs less than $3,200.
The test is currently available to Children’s Mercy patients and to referring physicians through the Center for Pediatric Genomic Medicine at Children’s Mercy.
Children’s Mercy plans to make the test available in the near future to hospitals and medical organisations across the US.
Children’s Mercy Hospital, a 354-bed hospital, provides care for children from birth through to the age of 21.
Its faculty of 600 paediatricians and researchers across more than 40 subspecialities are actively involved in clinical care, paediatric research, and educating the next generation of paediatric subspecialists.
Image: The main campus of Children’s Mercy Hospitals & Clinics. Photo courtesy of Mrd7b2.