Low-Cost Adult Whole Exome Sequencing Test

Introduction

Whole Exome Sequencing

Many adult undiagnosed disorders are associated with multiple symptoms that are heterogeneous and variable, rendering results of traditional biochemical-based testing ambiguous and difficult to interpret. Follow-on genetic testing for these suspected cases enables confirmation of the diagnosis. Genetic testing of certain genetic disorders may also be appropriate when treatment availability is dependent on a specific gene affected.

When To Consider Whole Exome Sequencing?

The Rainbow Low-Cost Whole Exome Sequencing Test provides physicians with timely ascertainment to determine the genetic etiologies of a variety of genetic disorders.

This test may be suitable for patients who do not want to wait for approval to receive an exome sequencing test provided by local hospitals. In Asia, such wait time could exceed one year.

In addition, many low-income patients with limited budgets do not have access to complex genomic testing. We offer a low-cost whole exome sequencing test to these patients and families, enabling them to obtain a timely-diagnosis.

Low-Cost Genetic Counseling Included

Also, low-cost genetic counseling provided by an accredited, Chinese - and English-speaking genetic counselor is available. This service is provided by a genetic counselor with multiple years of clinical experience, who is also dedicated to local community services.

When To Consider Whole Genome Sequencing?

For patients who have received a negative report with no pathogenic mutation findings using previous multiple gene or whole exome sequencing tests, we offer low-cost whole genome sequencing to detect mutations not detected by whole exome sequencing.

Triple Repeat Analysis

We offer the following REPEAT EXPANSION tests that can be ordered with whole exome sequencing

  • FRAGILE X SYNDROME

  • HUNTINGTON DISEASE

  • KENNEDY DISEASE

  • FRIEDREICH ATAXIA

Whole exome sequencing is not designed to detect these repeat expansion variants. The above repeat expansion tests are offered at low cost level to be used with whole exome sequencing tests.

Whole Exome Sequencing

  • Examples of Conditions

    • Unexplained abnormalities and symptoms including pains, headaches, heart palpitations, paralysis, numbness and tingling, etc.

    • Cardiomyopathy and Irregular Heartbeat

    • Hereditary Cancers

    • Neurological Disorders

    • Behavioral and Neuro-Degenerative Disorders

      • Including amyotrophic lateral sclerosis, dementia and Alzheimer’s Disease

    • Retinitis Pigmentosa, Cone-Rod Dystrophy & Vision Loss

    • Abnormalities of Skin

    • Spontaneous Abortion

    • Male and Female Infertility

    • Connective Tissue Disorders such as Ehlers-Danlos syndromes

    • Adult Recessive Disorder and Carrier Screening

    • Epilepsy/Seizure

    • Hearing Loss

    • RASopathy

    • Metabolic Disorders (See list below)

Diagnostic Testing with Optional Secondary Finding Report

  • Based on whole exome sequencing, this is a diagnostic analysis associated with patient's symptoms

  • Whole Exome Sequencing at 200X Depth

  • Or, choose Whole Genome Sequencing if previous multi-gene or whole exome sequencing testing failed to identify pathogenic mutations.

  • Secondary finding report is available

  • Report pathogenic variants, causative copy-number variants and variants of uncertain clinical significance

  • Regular turnaround time is 1.5-2 months

Testing Process

Test Process

  • Clinical whole exome sequencing is performed at a U.S. CAP-accredited and CLIA-certified Laboratory

  • 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 at >50Kb

  • Trio sequencing available - de novo mutations will be reported using trio analysis

Clinical Interpretation

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

Test Report

  • Clinical report (English) is finalized and issued by board-certified medical director

  • Written genetic counselor summaries are included in the report

  • Multilingual genetic counseling provided by an internationally-accredited, board-eligible genetic counselor is available at a low cost level (about HK$780 or US$100).

Categories of Metabolic Disorders Tested

 

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Patients will be referred to physician-specialists with substantial clinical genetic experience for pre- and post-test consultation and care.