Rainbow MMC™ (Mendelian and Monogenic Conditions) Test

Introduction

Whole Genome Sequencing

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

Over 6,000 human diseases can be classified as monogenic and Mendelian disorders, and these conditions affect millions of people worldwide. Clinical tests based on whole genome or 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 designed for adult patients showing symptoms associated with genetic disorders.

Rainbow MMC™ (Mendelian & Monogenic Conditions) Test

The test may provide a definitive diagnosis after microarray or panel-based gene testing and biochemical clinical analysis that failed to produce a positive result.

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

Optional Preventive Health Screening and Genome-Wide Carrier Testing Available

Preventive Health Screening

• The test determines your risk of developing genetic disorders associated with your health in the future. Over 6000 genetic disorders are currently known. We determine pathogenic variants associated with these monogenic disorders using 20,000 genes and 3 billion bases from your genome. Conditions screened include hereditary breast, ovarian, uterine, stomach, pancreatic, prostate & colorectal cancers, cardiomyopathy, arrhythmia, and familial hypercholesterolemia

Genome-Wide Carrier Testing

• This test determines your risk of passing on genetic disorders to your children. This is an genome-wide carrier status screening of over 1300 recessive disorders

Test Descriptions

• The process starts with a physician office visit. The clinician will order the test for the patient.

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

• Rainbow's Triple Clinical Interpretation Analysis will be performed by experts in the U.S. and Japan

• Duplication, insertion, deletion and single-nucleotide variants will be analyzed

• Copy Number Variation (CNV) report including chromosomal aneuploidies, microdeletions and microduplications at >30kb resolution can also be ordered by the physician. The report content is similar to that obtained from Clinical Microarray (CMA) testing

• If whole genome sequencing is used, structural variants (SV) will also be analyzed

Optional ACMG incidental findings

• Whole genome 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.

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