Quite often there is the connotation that Diagnostic Exome Sequencing (DES) is too slow, examines too many genes, is too expensive, and has limited clinical utility. Ambry Genetics counters those thoughts about DES with our ExomeNext-Rapid test (Test Code: 9999R). 

Ambry’s recent, peer-reviewed publication demonstrates how Rapid Diagnostic Exome Sequencing, specifically ExomeNext-Rapid, can be an invaluable tool inside and outside of the NICU, especially when time is of the essence. 

The retrospective analysis found that:

• Our clinical rapid exome (ExomeNext-Rapid) sequencing identified a definitive diagnosis in 31.7% of tested patients, who were unselected for age.
• ExomeNext-Rapid identified relevant findings in 41.5% of patients tested.
• The average time to verbal report was 7 days.

Other important information regarding ExomeNext-Rapid:

• Ambry has one of the lowest self-pay prices for Rapid Diagnostic Exome.
• ExomeNext-Rapid can quickly rule out potential inaccurate diagnoses, thereby limiting extraneous testing, thus reducing cost and time spent in a critical care unit.
• Sequencing the entire exome at once may save precious time versus using smaller, targeted STAT panels.

Ambry encourages the genetic testing community to consider educating your institution’s NICU/PICU providers on the importance of Rapid DES and the importance of a genetics consult.  Ambry’s dedicated field team is always willing to provide education to these teams as well. If you’re a non-genetics provider, reach out to Ambry to have your local field team representative provide an in-service to your department.

Please learn more about findings by reading our recent publication in Molecular Genetics and Genomic Medicine When moments matter: Finding answers with rapid exome sequencing.