Rainbow MMC™ (Mendelian and Monogenic Conditions) Test

Whole Genome Sequencing

Early Diagnosis, Treatment and Prevention are Important for Management of Mendelian Disorders and Monogenic Diseases

There are over 6,000 genetic diseases caused by changes in a single gene (called monogenic or Mendelian disorders), affecting millions of people worldwide. Tests using whole genome sequencing can help identify the genetic causes of these conditions.

The Rainbow MMC™ test is designed to help adults with symptoms of genetic disorders find answers.

Rainbow MMC™ (Mendelian & Monogenic Conditions) Test

This test can give a clear diagnosis when other methods, like microarray, gene panels, or biochemical tests, haven't provided answers.

Our doctors will assess your symptoms and focus on finding the genetic cause linked to your condition. This test is especially helpful for patients with conditions like epilepsy, cancer risks, skin or bone issues, hearing loss, nerve and eye disorders, heart problems (like cardiomyopathy or arrhythmia), and other unexplained diseases.

Optional Preventive Health Screening and Carrier Testing

Preventive Health Screening
This test checks your genetic risk for developing certain health conditions in the future. By analyzing 20,000 genes and your entire genome, it identifies genetic variants linked to over 6,000 disorders. Conditions screened include hereditary cancers (breast, ovarian, prostate, and more), heart issues like cardiomyopathy and arrhythmia, and high cholesterol (familial hypercholesterolemia).

Genome-Wide Carrier Testing
This test identifies whether you carry genes for over 1,300 genetic disorders that could be passed on to your children. It helps you make informed family planning decisions.

Test Descriptions

Your doctor will order the test for you

  • Clinical whole genome sequencing is performed at U.S. CAP-accredited or CLIA-certified laboratory, or an ISO-certified laboratory.

  • Hard-to-find mutations will be checked, including changes in chromosome numbers, tiny missing or extra pieces of DNA, including

    • Copy Number Variants (CNV) including chromosomal aneuploidies, microdeletions and microduplications, duplication, insertion, deletion and single-nucleotide DNA changes.

Optional Secondary Findings (ACMG Recommendations)

  • Whole genome sequencing can sometimes find genetic changes unrelated to the condition being tested.

  • These "extra" findings might help manage or prevent other health problems you and your doctor weren’t expecting.

  • They include risks for treatable or preventable conditions like inherited colon and breast cancers, heart diseases (e.g., cardiomyopathy, arrhythmia), high cholesterol, and sensitivity to certain medications.

You can choose to receive or opt out of these findings based on your preference.

Is This Test Right For You?

If you or a family member has symptoms of a genetic disorder, experts recommend genetic testing.

These tests are helpful, especially if earlier tests like microarray, single-gene, or panel tests didn’t find the cause or provide a diagnosis.

Doctors may choose whole genome sequencing early on to quickly find answers, avoiding the long process of other types of genetic or biochemical testing.

We provide free referrals to physicians with substantial clinical genetic experience for pre- and post-test consultation.