• A genome is an organism’s complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism.

• A human genome contains more than 3 billion DNA base pairs, including more than 20,000 genes.

• Genes provide instructions for making the proteins our bodies are built of.

• Genes make up about 1% of the genome. The rest of the DNA are located in between these genes, and these regions represent about 99% of the human genome. These “in-between genes” regions are called the introns. The intronic regions are important for regulating genes and functioning of the genome.

• For example, intronic variants can switch genes on and off at the right time.

• Genetic variations in the intronic regions (also known as “single nucleotide polymorphism, or SNP) are known to be associated with many common disease risks, such as our predisposition for lung and liver cancers, heart attack, stroke and diabetes, etc.

Rainbow Genomics’ whole genome sequencing tests provide comprehensive analysis of

• 20,000 genes and introns represented by 3 billion base pairs.

• Difficult-to detect, disease-related genetic variants associated many complex neurological and psychiatric disorders, such as autism.

• Specifically, the following types of mutations are determined by Rainbow Genomics’ whole genome sequencing tests:

  1) Single nucleotide variants

  2) Copy number variants

  3) Indels

  4) De novo variants

  5) Repeat expansions

  6) Mosaic mutations

  7) Mitochondrial mutations

  8) Intronic mutations

  9) Polygenic variants

• Many difficult-to-determine gene mutations are copy number and structural variations. mosaic mutations and variants located at the unstable regions of the genome.

• Exome or multi-gene panel sequencing may not detect these gene variants.

• Whole genome sequencing at 40x-80x provides sufficiently-high resolution, with relatively-even gene coverage, enabling the detection of these difficult-to-detect mutations, leading to a successful disease diagnosis.

• This is another reason why we can achieve industry leading diagnostic yields.

• 40X-80X Deep Whole Genome Sequencing: 120-240 Gb

• Whole genome sequencing produces over 10 times more data compared to data generated from whole exome sequencing

• Patients already show signs and symptoms associated with one or more disorders may benefit from genetic diagnostic testing.

• These clinical presentations often do not point to a clear disease origin, making it difficult to confirm a diagnosis.

• Your physician may suspect that a “disease-causing genetic change” is responsible for your disorder.

• Analysis of your genetic information can quickly lead to a final diagnosis.

• With a diagnosis, your physician can then suggest a treatment, or a risk reduction strategy based on prediction of the course of a disease development.

• Unlike many laboratories who offer one type of testing for a patient at a time, we offer multiple technologies, simultaneously, to test for many types of gene mutations, achieving one of the industry highest diagnostic success rate.

• For example, we use a high-resolution microarray (at 1.6Kb resolution) coupled with whole genome sequencing (50X or above) and Sanger sequencing -

  • To detect small mutations (single nucleotide variants, insertions and deletions), large structural variants, multi-gene deletions, intronic and mosaic variants.

• We also use RNA sequencing to further confirm a wide range of variants that may not be resolved using just whole genome sequencing data.

• These tests are used to determine genetic variations associated with hereditary and common disorders.

• Healthy individuals, especially those who have one or more family members already diagnosed with a hereditary disorder (such as breast cancer), may benefit from these tests.

• A positive result may help the individuals and their physicians to develop more effective prevention and early-detection strategies.

Whole Genome Sequencing Test is our primary and first-line testing approach to achieve high diagnostic yield with a one-to-two-month testing turnaround time.

Whole genome sequencing as the first tier test for a wide rang of disorders is supported by multiple guidelines and policy statements.

Please contact us for the latest medical and scientific literatures.

• Whole Genome Sequencing

• Chromosomal/Clinical Microarray/Methylation MLPA

• RNA & Transcriptome Sequencing

• Sanger Sequencing

• Long-Read Sequencing

• Repeat Expansion Analysis

• High-Density DNA Microarray

• Pharmacogenomics

• Ethnic-Specific Gene-Drug Interaction Analysis

• Polygenic Scores & Common Disease Risk Analysis

• PCR & MLPA

• Microbiome

• Proteomics

Affordable whole genomic sequencing test is available for low-income families with support of physicians and genetic counselors. Please inquire.

For low-income families, Rainbow also provides low-cost or free genetic counseling as a community service.