Alzheimer's Disease, Parkinson's Disease, and Frontotemporal Dementia

Whole Exome Sequencing Test

Introduction

This test preemptively determines the risks of developing multiple hereditary neurodegenerative disorders associated with mental deterioration.

  • Specific focus - Alzheimer's Disease, Parkinson's Disease, and Frontotemporal Dementia.

  • Whole-Exome Analysis - Multiple hereditary neurodegenerative disorders and their associated pathogenic genetic variants included in international databases (including ClinVar and OMIM) will be reviewed

  • Gene-Specific Analysis - A specific list of genes associated with Alzheimer's Disease, Parkinson's Disease, and Frontotemporal Dementia will also be analyzed

  • Only pathogenic or likely-pathogenic genetic variants will be reported for asymptomatic individuals.

  • If symptoms are provided for a patient, variants of uncertain clinical significance (VUS) will also be reported Duplication, insertion, deletion and single-nucleotide variant analysis included

Specific Gene Analysis

Gene List

 

Test Descriptions

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

  • Clinical whole exome sequencing at 150X-200X coverage 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

    1. First-round clinical interpretation is performed by U.S. board-certified clinical geneticists

    2. A second clinical interpretation is performed by the medical team at the Center for Intractable Disease Research at Japan's Juntendo University Medical School (Tokyo)

    3. A third clinical analysis will be performed using multiple bioinformatic platforms including U.S.-based Fabric Genomics’ and U.K.-based Congenica’s algorithms and analytics

  • 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

Pharmacogenomics

Psychiatric Medications

Optional Pharmacogenomic Test on 47 Commonly-Prescribed Psychiatric Drugs

  • The OneOme (Backed by Mayo Clinic) RightMed test includes over 50 psychiatric medications

Benefits Of Whole Exome Sequencing Test

  • Recently discovered gene variants, usually not covered by fixed panel, will be included

  • Chinese, East Asian and South Asian specific variants, often not reported (or with conflicting classifications) in ClinVar and other international databases, will be carefully reviewed by Rainbow’s clinical teams in Japan and the U.S.

  • Rainbow's triple clinical interpretation approach (US and Japanese bioinformatics platforms, clinical geneticists and medical teams) has substantially increased our diagnostic yield for Asian patients compared to diagnostic yields reported in the literature.

Is This Test Right For You?

  • If you have a family history of dementia, Parkinson or Alzheimer disease, the disorder may have a genetic etiology. Genetic testing is effective in confirming such a genetic cause.

  • If you have symptoms and would like to preemptively determine if you have genetic risks associated with dementia, Parkinson or Alzheimer disease, you may want to discuss with your physician about receiving this genetic test.

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