Healthy Pediatric Exome Screening Test

This test is commonly ordered with Rainbow’s “diagnostic” pediatric exome sequencing test.
Physicians may prefer to also preemptively determine a child’s risks of developing over 1000 childhood on-set diseases while performing a diagnostic exome sequencing test targeting specific symptoms.

The Test

Clinical interpretation focuses on over 1700 genes across the whole exome
Only pathogenic or likely-pathogenic genetic variants associated with childhood-onset disorders will be reported
Clinical whole exome sequencing is performed at a CAP-accredited and CLIA-certified Laboratory

Data analysis and first-round clinical interpretation are performed by U.S. board-certified clinical geneticists at Fabric Genomics (California, USA)
Additional analysis and a "double" clinical interpretation are performed by the medical team at the Center for Intractable Disease Research at Japan's Juntendo University Medical School (Tokyo, Japan)
Clinical report (English) is issued by a medical director at Juntendo University
Rainbow Genomics also provides a supplementary clinical report in Chinese and Japanese with written genetic counselor summary

An additional clinical whole exome sequencing "diagnostic" report based on the child's symptoms and family history can be ordered
Optional trio-sequencing available, and trio analysis available in diagnostic reporting
de novo mutation determination included in trio analysis

If you have a family history of a genetic disorder and worrying about your child’s risk of developing the same disease, you may discuss with your physician to consider giving this test to your child.
If you and your physician are considering clinical whole exome sequencing or panel specific gene testing for you child to diagnose a genetic cause of existing symptoms, you may consider adding the pediatric screening test/reporting option to determine the risk of over 1000 childhood-onset disorders.

Physician Order Required