Rainbow Pediatric Care™ Whole Exome Sequencing Test


Over 6,000 human diseases can be classified as monogenic/Mendelian disorders, and these conditions affect millions of people worldwide. Mendelian disorders also significantly contribute to morbidity and mortality of hospital-based pediatric cases. In fact, childhood Mendelian disorders account for approximately half of blindness, deafness, severe mental retardation cases, and 40-50% of childhood deaths.  

Clinical tests based on whole exome sequencing have been demonstrated to be effective in identifying genetic causes of monogenic diseases. This complex diagnostic process allows the examination of approximately 22,000 genes in the human exome, to improve the yield of diagnosis.

The Rainbow Whole Exome Sequencing test is designed for pediatric patients. These are whole exome sequencing tests, targeting a patient with clinical findings that suggest an underlying genetic etiology.

Rainbow Pediatric Care™ Test

Clinical exome sequencing is particularly useful for children with Mendelian disorders. This includes cases without a prior genetic syndrome from any family members. Often, these young patients went through multiple genetic and biochemical testing without obtaining a diagnosis, thus delaying the treatment of their conditions.

The Rainbow Pediatric Care test combines exome sequencing at 100-170 fold sequencing depth, with Fabric Genomics and Juntendo University’s multiple years of experience in clinical interpretations to enhance the yield of a positive diagnosis. Suitable conditions include various developmental delays, neurological disorders, epilepsy, autism, hypotonia, childhood-onset ataxia, and dysmorphic features, etc.

Proband vs. Trio sequencing in pediatric cases.  In pediatric cases, it has been shown that sequencing both parents in addition to sequencing the child (a trio) increases the yield of a diagnosis, particularly for cases where there were no prior family histories. One reason for the higher diagnostic rate is because of the successful identification of de novo and compound heterozygous mutations via trio sequencing. Rainbow Genomics recommends trio sequencing whenever possible.

Test Descriptions

  • Clinical whole exome or whole genome sequencing is performed at a U.S. CAP-accredited and CLIA-certified Laboratory

  • First-round clinical interpretation is performed by U.S. board-certified clinical geneticists at Fabric Genomics (California, USA)

  • Additional, "double" clinical interpretation is performed by the medical team at the Center for Intractable Disease Research at Japan's Juntendo University Medical School (Tokyo)

  • Clinical report (English) is issued by a medical director at Juntendo University

  • Rainbow Genomics also provides a supplementary clinical report in Chinese with written genetic counselor summary

  • Clinical report includes variants of uncertain clinical significance (VUS) and pathogenic variants

  • Optional: If whole genome sequencing is used, a copy number variation (CNV) report can also be ordered by the physician. The report content is similar to that obtained from Clinical Microarray (CMA) testing

  • Optional trio sequencing available - de novo mutations will be reported using trio analysis 

Double Clinical Interpretation for Asians.  To provide highest quality interpretation for Asian patients, some of the test results with unusual Asian genetic variations may also be analyzed by genome medicine specialists at Juntendo University in Japan.  

The medical team at the Juntendo University have many years of experience providing genetic testing to Asian patients. More importantly, our Japanese bioinformaticians and clinicians are trained to provide clinical interpretation specifically for Asian patients including Chinese and Japanese individuals.

Is This Test Right For You?

If you or your family members already have symptoms of Mendelian or monogenic disorders, medical experts recommend genetic testing for you.

These tests may be suitable for patients who have had evaluations consisting of microarray-based, single-gene or panel-based genetic tests without identifying an etiology or obtaining a diagnosis.

Physicians may prefer to order clinical exome sequencing early in the patient's evaluation to expedite a possible diagnosis, without going through time-consuming biochemical, microarray-based, single-gene or panel-based genetic testing.