Pediatric Genomic Medicine STAT-Seq
Pediatric Genomic Medicine STAT-Seq

STAT-Seq is the fastest clinical whole genome analysis in the world, taking only 50 hours from test ordering to delivery of an interim report to the ordering neonatologist.

How it Works

We perform rapid whole genome sequencing to help physicians make a rapid diagnosis in neonates who are acutely ill with a likely genetic disease. We also use STAT-Seq to identify novel disease genes. STAT-Seq entails decoding the whole genome and is offered on a research basis. Disease-causing variants can be confirmed in our clinical laboratory. STAT-Seq uses software developed at Children’s Mercy which translates physician-entered clinical features in individual patients into a comprehensive differential diagnosis of relevant diseases.This software substantially automates identification of the DNA variations that can explain the child’s condition.

Determining Candidates

Up to one third of babies admitted to a NICU in the United States have a genetic disease, and more than 20 percent of infant deaths are caused by genetic illnesses. Typically, STAT-Seq is performed on an affected child and both parents or two affected children and one affected parent.

STAT-Seq Highlights

  • The analysis is the fastest in the world, taking only 50 hours from test ordering to report delivery.
  • STAT-Seq earned Dr. Kingsmore recognition as one of Medscape’s Best Physicians of 2012.
  • The process was named one of TIME magazine’s Top 10 Medical Breakthroughs of 2012.
  • The software supporting the process substantially automates identification of the DNA variation.

Referring Patients for STAT-Seq

STAT-Seq is a research test, and a physician referral is required. For more information, please send an email to smherd@cmh.edu or lkwillig@cmh.edu.

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