Rainbow Pedi 1000™ Whole Genome Sequencing Test

Introduction

What is Whole Genome Sequencing and How Can It Help Children?

Whole genome sequencing (WGS) is a special test that looks at all of a person’s DNA to find clues about their health. For children with unexplained medical problems like developmental delays, rare conditions, or inherited disorders, WGS can help find answers.

  • Unlike regular genetic tests that only look at certain parts of DNA, WGS checks the entire DNA (the the entire human genetic code, called the human genome). This makes it better at finding rare changes that could explain a child’s condition, especially if other tests haven’t worked.

  • By finding the cause of a child’s health issues, WGS can lead to a clearer diagnosis, better treatments, and important information for families. It can also help parents and doctors make better plans for the child’s future care.

  • If your child has a medical condition with no clear answers, WGS might provide the insight you’re looking for.

Why consider genetic Testing?

There are over 8,000 diseases caused by a single gene, and these affect millions of people worldwide. Many of these diseases are responsible for problems like blindness, deafness, severe learning disabilities, and even death in children.

  • Many childhood disorders are linked to genetics, so finding the genetic cause is really important because more treatments are now available that target these specific gene problems.

  • Genetic testing also helps doctors find out what’s causing these conditions. Getting a quick and accurate diagnosis helps doctors provide better care and avoid unnecessary treatments.

  • It also gives parents a chance to plan for their child's future healthcare and understand how the condition may affect their child’s growth, behavior, and learning.

Whole genome sequencing is a powerful test that looks at 3 billion base pairs and around 20,000 genes to identify the cause of genetic diseases.

  • Rainbow Whole Genome Sequencing is designed to help children who may have a genetic disorder causing their condition.

    • Eye Disorders

    • Hearing Loss

    • Congenital Heart Disease

    • Connective Tissue Disorders such as Ehlers-Danlos syndromes

    • Developmental Delay

    • Dysmorphic Features

    • Hypo- or Hyper-Pigmentation

    • Intellectual Disability

    • Metabolic Disorders

    • Neurological Disorders including Epilepsy/Seizure

    • Pediatric growth abnormalities such as

      • Abnormal Genital Morphology

      • Early Puberty

      • Tall/Short stature

    • RASopathy

    • Skeletal Abnormalities

    • Speech Delay

The Pedi 1000 test also checks for over 1000 disorders that can affect children, helping doctors take steps to prevent these diseases.

    • Abnormal liver function

    • Abnormal movements

    • Allergies

    • Anemia

    • Autism spectrum disorder

    • Autoimmune disorders

    • Blistering of skin

    • Congenital heart defect

    • Developmental delay

    • Diabetes type 1

    • Exercise intolerance

    • Growth hormone abnormality

    • Hearing loss

    • Intellectual disability

    • Jaundice

    • Leukemia

    • Sex hormone abnormality

    • Short stature

    • Stroke like episodes

    • Sudden infant death

    • Undescended testicles

    • Vertebral anomaly

Rainbow Pedi 1000™ Pediatric Care Test

Clinical whole genome sequencing is helpful for children with genetic disorders, even if no one in the family has had a similar condition.

  • Many children go through lots of tests without a clear answer, which can delay treatment.

The Rainbow Pedi 1000 test uses advanced technology to find the cause of rare diseases, developmental delays, behavior problems, and other health issues in children.

  • It can help diagnose conditions like autism, epilepsy, and movement issues.

Whole Genome Sequencing

  • Doctors can choose different ways to test a child’s genes, like testing just the child, the child and one parent, or all three (child and both parents).

  • Rainbow uses the latest technology from the U.S., U.K., and Israel to look for hard-to-find genetic changes, including copy number variants.

  • They also use special methods like RNA and Sanger sequencing to find even smaller, harder-to-detect changes. Long-read sequencing helps confirm tricky genetic issues.

This approach helps find new genetic changes in different groups of people, especially mutations not already included in international databases, leading to faster and more accurate results.

Bioinformatics & Clinical Interpretation

Rainbow uses advanced tools to make the analysis and interpretation of genetic tests more accurate and faster.

  • These tools include smart computer programs, artificial intelligence and automated systems that help classify genetic changes.

Trio sequencing

In children's cases, testing both parents along with the child (called trio sequencing) increases the chances of finding a diagnosis, especially when there is no family history of the condition.

  • One reason for better diagnosis is that trio sequencing helps find new gene changes (called de novo mutations) and different gene changes from both parents (called compound heterozygous mutations)

Rainbow Genomics recommends trio sequencing whenever possible.

Comprehensive Test Details

The Test -

  • Clinical whole genome sequencing (40-80x sequencing depth) is performed at a U.S. CAP-accredited and CLIA-certified laboratory or at an ISO-certified Hong Kong laboratory

  • Clinical report is issued by a board certified medical director (M.D. PhD. dual degree holder)

  • Genetic Counseling us included and is provided by an Australia-registered genetic counselor

Reports -

1. Diagnostic Test Report

  • Rainbow offers a detailed genetic analysis based on the child's symptoms and family history.

  • Experts from the U.S. and Japan will interpret the results.

    • They will analyze different types of genetic changes, such as duplications, deletions, and single-nucleotide changes.

    • They will report on chromosome changes like extra or missing pieces of DNA, similar to what clinical microarray tests provide.

  • Additionally, trio sequencing can help detect new genetic changes that appear in the child but not the parents.

  • Rainbow may also use other testing methods, like RNA and Sanger sequencing, to confirm certain types of mutations.

2. Early Screening Report for 1000 Childhood Conditions

  • This test helps predict the risk of more than 1,000 diseases that can start in children.

  • It uses a method similar to the BabySeq newborn screening project from Boston Children's Hospital and Harvard Medical School.

  • The test looks at over 1,600 genes linked to these childhood diseases to give a clear understanding of potential health risks.

Is This Test Right For Your Child?

  • If you or your family have symptoms of certain genetic disorders, doctors may recommend genetic testing.

  • This test is helpful for people who have already had other tests, like microarrays or multi-gene tests, but still don't have a diagnosis.

  • Doctors may choose whole genome sequencing early on to speed up the diagnosis, saving time compared to other types of testing.

References

Patients will be referred to physician-specialists with substantial clinical genetic experience for pre- and post-test consultation and care.

Our collaborating clinicians include neurologists, pediatric complex-disorder specialists, emergency neonatal physicians, behavioral and psycho-developmental specialists, and rare disease specialists.