Pediatric Diagnostic Testing

Whole Genome Sequencing

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RNA Sequencing

Pediatric Diagnostic Testing:

We offer tests to diagnose a wide range of rare diseases, neurological disorders, and developmental conditions in children:

• Whole Genome Sequencing (WGS)

• Transcriptome and Sanger Sequencing

• These tests help identify various genetic mutations and gene expressions linked to specific conditions.

For our Pediatric Whole Genome Health Screening Test, based on the BabySeq project from Boston Children’s Hospital and Harvard Medical School, we co-developed a special gene panel with about 200 genes with Fabric Genomics and clinical specialists in Asia. This panel includes the latest genes associated with childhood-onset disorders.

Our tests now cover over 1600 genes related to more than 1000 childhood-onset genetic disorders.

Autism Spectrum Disorder

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Co-Occurring Conditions

Whole Genome Sequencing

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RNA Sequencing

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High-Resolution Microarray

We are one of the first testing labs to offer a combination of whole genome, RNA, and Sanger sequencing, to identify challenging mutations related to autism and co-occurring conditions in under two months.

Co-Occurring Conditions

Over the past decade, research has shown that autism is caused by multiple genes and environmental factors and often comes with other overlapping conditions. It's hard to pinpoint which genes cause the common symptoms of autism. For example, mutations in the UBE3A gene can cause both autism and Angelman syndrome, which have similar symptoms but are different conditions. This can lead to misdiagnoses.

Spontaneous Genetic Mutations

A recent study found that spontaneous genetic mutations, known as de novo mutations, contribute to 52%-67% of autism in families with only one affected child and 30%-39% of all autism cases. These mutations occur in the child and are not inherited from the parents.

Rainbow's whole genome sequencing test is designed to detect these complex de novo mutations, including difficult-to-identify intronic, splice site, and mosaic mutations.

Curated Gene List

Rainbow has also created a list of over 1000 newly-discovered autism genes, which helps analyze complex copy number variations (CNV) and de novo mutations in these new autism genes.

Spontaneous Genetic Mutations

A recent large study found that spontaneous genetic mutations, also known as de novo mutations, contribute to 52%-67% of autism cases in low-risk families (with one affected child) and 30%-39% of all autism cases. These mutations happen in the child and are not inherited from the parents.

Rainbow's whole genome sequencing test is designed to detect these complex de novo mutations, including challenging intronic, splice site, and mosaic mutations.

Rainbow has curated a list of over 1000 newly-reported autism genes with annotations, which helps analyze complex copy number variations (CNVs) and de novo mutations in these new autism genes.

Copy Number Variants (CNVs)

CNVs are submicroscopic structural changes in chromosomes, like duplications, deletions, translocations, and inversions, that can contribute to autism. Recent autism research, including studies in Asia, highlights the importance of CNVs. Whole genome sequencing, along with RNA and Sanger sequencing and high-resolution microarray testing, helps identify these small and multi-gene CNVs.

Detecting Challenging Mutations Associated With Autism

To confirm autism and co-occurring conditions, it's crucial to accurately identify pathogenic mutations in many genes that have difficult-to-detect variations. Rainbow's multi-genomic testing approach is unique because it enables the simultaneous detection of multiple types of genetic mutations from the whole genome, leading to a rapid understanding of the genetic cause of the disorder.

Challenging mutations include:

• Copy Number Variants (CNVs): Small structural changes in chromosomes within a single gene (intragenic) and across multiple genes (multi-gene).

• Intronic Mutations: Changes within the non-coding regions of a gene, including deep intronic variants.

• Mosaic Mutations: Mutations that occur in some cells but not all, including mosaic CNVs.

• Splice Site Variants: Changes that affect the areas where genes are cut and spliced together.

We use advanced technology platforms, including whole genome, RNA, Sanger, long-read sequencing, high-resolution microarray, and high-density DNA array genotyping, to identify these challenging mutations.

Proteomics + Genomics

Proteomic Testing

Whole Genome Sequencing

• 20 000 genes

• 3 billion Base Pairs

• 7000 Proteins

Stroke & Heart Attack in 10 Years? and How to Prevent?

Based on 7000-Protein Testing and Whole Genome Sequencing Test

• 10-Year risk assessment of heart attack and stroke

• For high risk patients, 4-year heart attack and stroke risk determination with 7000 blood proteins

• Prediction of second heart attack in a few years

• DNA traits to guide nutrition, exercise improvement and weight loss

Collaborating with UCLA’s Clinical Genomic Center, Rainbow created a list of over 100 genes targeting specific heart and muscle diseases. These genes are included in our test interpretations

Hereditary Cancer Testing

Large Genomic Rearrangement sequencing

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Whole Genome Sequencing

We use whole genome sequencing to find single nucleotide variants, large DNA rearrangements (copy number variants), and new gene mutations not reported in any international databases.

• Working with Baylor Genetics, we created a list of over 100 genes to screen for most known hereditary cancer variants. Combined with whole genome sequencing, this test is the most comprehensive for hereditary cancer available, whether or not individuals have symptoms or a family history.

• We use ethnic-specific polygenic scores to better estimate lifetime risks of common cancers.

We are among the first to provide both hereditary cancer risk (5 to over 20 times higher risk compared to non-carriers) and common cancer risk (1.3 to 3 times higher risk compared to non-carriers) to encourage individuals to improve their lifestyle and follow screening guidelines.

Rainbow Psycho-Pharmacogenomic Testing

“Point-of-Prescription” Real-Time Physician Support System

We help doctors improve treatment for patients who don't respond well to certain medications

Pharmacogenomics is the study of how a person's genes affect their response to medicines, helping doctors choose the right drug and dose for each individual.

• By using genetic information about drug responses and side effects, psychiatrists can choose better medications.

• Our test combines drug effectiveness data and patient tolerance profiles, helping doctors quickly find alternative psychiatric medications with fewer side effects and less trial and error.

• The Rainbow Pharmacogenomic test examines 100 genetic variants in 27 genes for Asians, Caucasians, and mixed-race populations. It covers over 180 drugs.

Our "Point-of-Prescription" support system helps doctors, even those without prior pharmacogenomic experience, quickly choose alternative medications. It also shows potential drug interactions for patients on multiple medications.

Improve clinical outcome prediction and cancer prognosis

RNA Sequencing & Deep Exome Sequencing

We use RNA and deep exome sequencing of normal-tumor pairs to identify mutations driving tumor progression.

• Whole Exome Analysis: Examines tumor and matching normal samples to find key tumor and inherited mutations.

• RNA Sequencing: Detects gene expression and mutation profiles at the RNA level.

This process:

• Pinpoints mutations that affect cancer gene expression.

• Identifies gene fusions from chromosome rearrangements.

It complements routine tumor genetic testing by offering additional therapy options and predicting clinical outcomes.

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