Rainbow MMC (Mendelian and Monogenic Conditions) Test

Introduction

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

Over 5,000 human diseases can be classified as monogenic and Mendelian disorders, and these conditions affect millions of people worldwide. Clinical tests based on whole exome sequencing have been demonstrated to be effective in identifying genetic causes of monogenic and Mendelian diseases.  The Rainbow MMC™ (Mendelian & Monogenic Conditions) tests is an exome sequencing test designed for adult patients.


Rainbow MMC™ (Mendelian & Monogenic Conditions) Test

Adults with Mendelian disorders or monogenic diseases could benefit from clinical exome sequencing. The test may provide a definitive diagnosis after multiple microarray or panel-based gene testing and biochemical clinical analysis that failed to produce a positive result.

Our physicians will determine the disease condition (phenotypes), and our analysis will focus on determining a causative genetic variant associated with the reported condition. Patients with the following conditions may benefit from this test – epilepsy, cancer predisposition, neurological and retinal disorders, cardiomyopathy, arrhythmia and a wide range of Mendelian disorders.  


Test Descriptions

The process starts with a physician office visit at a Rainbow-authorized clinic. The clinician will order the test for the patient. Clinical whole exome sequencing at mean 100X-150X coverage is performed at CAP-accredited and CLIA-certified laboratories. Clinical interpretation is performed by the Fabric Genomics and tend Universty under ACMG guidelines.

Double Clinical Interpretation for Asians.  To provide highest quality interpretation for Asian patients, some of the test results with unusual Asian genetic variations may also be analyzed by genome medicine specialists at Juntendo University in Japan.  

The medical team at the Juntendo University have many years of experience providing genetic testing to Asian patients. More importantly, our Japanese bioinformaticians and clinicians are trained to provide clinical interpretation specifically for Asian patients including Chinese and Japanese individuals.

Optional ACMG incidental findings. Whole exome sequencing may identify genetic variants that are unrelated to the clinical condition tested (incidental findings). These “secondary” findings may be beneficial in managing additional health conditions not anticipated by the patients or their physicians. ACMG issued guidelines on reporting genetic variations on 59 genes. These genes were determined to be “medically actionable” on disease conditions that may be manageable or even preventable. These conditions include inherited colon and breast cancers, inherited cardiac diseases such as cardiomyopathy and arrhythmia, familial hypercholesterolemia, and malignant hyperthermia susceptibility, etc. Rainbow Genomics provides adult patients the option to obtain, or “opt out” of receiving these findings.


OneOme RightMed Test Included

"Understand your drug response to over 350 medications"

"Including over 40 oncology & 30 cardiovascular drugs"


During the office visit, your physician will also collect your DNA sample through a simple cheek swab for the OneOme RightMed® pharmacogenomic test. The sample will be sent to OneOme's CAP-accredited and CLIA-certified clinical testing laboratory. The OneOme clinical team will perform the testing, analysis and issue a clinical test report.


Is This Test Right For You?

If you or your family member already have symptoms of Mendelian or monogenic disorders, medical experts recommend genetic testing for you.

These tests may be suitable for patients who have had evaluations using microarray-based, single-gene or panel-based genetic tests without identifying an etiology or obtaining a diagnosis.

Physicians may prefer to order clinical exome sequencing early in the patient's evaluation to expedite a possible diagnosis, without going through time-consuming biochemical, single-gene or pane-based genetic testing.


Physician Order Required