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

Clinical Interpretation and Reporting

  • 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

Companion Diagnostic Reporting & Optional Trio- Sequencing

  • 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

Is the Pediatric Screening Exome Test Right for Your Child

  • 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