Numerous clinical guidelines, policy statements and cohort studies support the use clinical-grade whole genome sequencing as a first tier test to

• Achieve the highest diagnostic yield

• End diagnostic odyssey

  Contact us to obtain clinical guidelines, policy statements and large scale cohort study publications appropriate to you clinical specialty.

We use multiple molecular diagnostic technologies to determine difficult-to-detect mutations.

By using these technologies, we achieve industry leading diagnostic yield - We return a pathogenic finding in 60%-75% of patients.

Technologies used:

• Deep whole genome sequencing at 40x-80x

• Ancestry-adjusted polygenic risk scores

• RNA sequencing

• Long read sequencing

• CNV analysis

• Repeat expansion analysis

• Clinical microarray

• Pharmacogenomics

• Proteomics

• 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

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

Areas Between Genes

• The areas between genes are called introns. These regions make up about 99% of the human genome. Introns can help switch genes on and off at the right times.

• Genetic variations in the intronic regions are known to be associated with many common disease risks, such as our predisposition for lung and liver cancers, heart attack, stroke and diabetes.

Rainbow whole genome sequencing (WGS) test covers all 20,000 genes and the remaining 99% of DNA, providing you the most comprehensive diagnosis, disease prevention and health improvement insights.

Rainbow Genomics’ whole genome sequencing tests provide a detailed analysis of:

20,000 genes and the spaces between them (introns), represented by 3 billion DNA letters.

Hard-to-detect, disease-related genetic changes linked to complex disorders, like autism and cancers.

• Many gene mutations are hard to detect because they involve challenging mutations such as structural and copy number changes, and mosaic mutations.

• Exome or multi-gene panel sequencing might miss these changes.

• Whole genome sequencing at 40x-80x resolution, produces over 10 times more data, giving us high enough detail and consistent coverage to detect these tricky mutations, leading to accurate disease diagnosis.

• This helps us achieve industry-leading diagnostic success rates.

• You may have symptoms that don’t clearly show what disease you have, making diagnosis hard.

• 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 doctor can suggest a treatment or ways to reduce risk based on how the disease might develop.

• Unlike many labs that test one thing at a time, we use multiple technologies at once to find various gene mutations, polygenic risks, blood protein changes, giving us one of the highest success rates.

• We use all these: 20,000 genes + 7000 blood proteins + 3 billion DNA codes from your genome to determine your polygenic risk scores (cardiometabolic diseases and cancers).

These preventive tests find genetic variations linked to hereditary and common disorders.

Healthy people, especially those with family members diagnosed with disorders (like breast cancer), may benefit from these tests.

We determine your long-term risk for serious diseases:

• breast, colon, prostate cancers,

• heart attack, stroke

• diabetes

And how likely you are to get these diseases in the next few years.

A positive result can help individuals and their doctors create better plans for prevention and early detection.

Our doctors will provide personalized care to prevent or treat these diseases, leading to better health outcomes.

• Genetic counselors inform patients about how a genetic condition might affect them or their families.

• Skilled genetic counselors also provide psychosocial support to help patients and their families adapt to their genetic test results and genetic conditions.

• Genetic counselors also refer patients to other healthcare providers, advocacy and support groups.

• Rainbow Genomics provides genetic counselling services delivered by a dual-U.S. and Australia registered genetic counselors -

  • U.S. and Australia Licensed, Board-Certified with multiple years of clinical training and experience

    • Rigorous training and certification: U.S. board-certified genetic counselors must complete an accredited master’s degree, extensive supervised clinical training, and pass a national board exam, ensuring a high level of expertise in both genetics and patient care.

    • Better patient outcomes and support: This strong training allows them to provide accurate risk assessment, clear explanations, and psychosocial support, helping patients make informed decisions and reducing anxiety.