Expanded & Whole Exome Carrier Status Testing

Introduction

  • Monogenic diseases collectively account for 20% of infant mortality and 18% of pediatric hospitalizations. To-date, carrier-status screening, with proper genetic counseling, has resulted in substantial declines in the incidence of severe recessive diseases.

  • Currently, over 1,300 recessive monogenic disorders have established molecular basis for prenatal diagnosis. However, only about 300 recessive disorders are routinely tested.

  • Using a combination of deep sequencing of well-known carrier-screening genes, and whole exome analysis of additional pathogenic variants associated with thousands of recessive and reproductive disorders, patients can obtain a more comprehensive understanding of their risks of passing on genetic variants that may cause debilitating disorders in their children.

  • Disorders associated with maternal spontaneous abortion and abnormal prenatal development will also be reviewed using exome-wide gene analysis.

Expanded Carrier test

  • Determine pathogenic variants associated with 301 genes and 300 recessive disorders.

  • The test is appropriate for those of all ethnicities who want an assessment of their risk of having an affected child.

  • All disorders analyzed are recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG).

  • Include cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome.

  • Turnaround time is approximately 4 weeks.

Whole Exome Sequencing Carrier Test with Abnormal Prenatal Development Analysis

  • This exome sequencing test determines pathogenic variants associated with known recessive and x-linked disorders reported in multiple international clinical databases.

    1. Over 5000 diseases and 3000 genes will be reviewed.

  • Gene-specific analysis

    1. In depth analysis using 555 carrier-status genes curated by Rainbow Genomics will be performed.

    2. Over 1400 genes associated with childhood-onset disorders covered by the BabySeq Newborn Screening at the Harvard Medical School & Boston Children's Hospital will also be reviewed.

  • Exome-wide prenatal development abnormality analysis

    1. All 20,000 genes, including a specific list of 710 genes associated with over 700 disorders, will be analyzed for maternal spontaneous abortion and abnormality of prenatal development.

    2. Recurring and spontaneous abortions are known to be caused by these monogenic disorders.

Test Descriptions

Expanded Carrier Test

  • The expanded carrier test is performed by a U.S. CLIA-certified and CAP-accredited laboratory.

  • English clinical report will be issued by a U.S. board-certified medical director.

Whole Exome Sequencing Test

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

Diagnostic Test Report

  • This is a diagnostic analysis based on the child's symptoms and family history

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

    1. Multiple pipelines and interpretation platforms, including a range of analytics are used:

      • Advanced algorithms

      • Artificial intelligence

      • Natural language processors

  • 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

Incidental Finding & Health Screening Test report

  • This test preemptively determines the risks of developing over 1000 childhood on-set diseases

  • The test approach is modeled after the BabySeq project implemented at the Boston Children's Hospital & Harvard Medical School in the U.S.

  • Clinical interpretation using over 1600 genes associated with over 1000 childhood-onset disorders

Are These Carrier Tests Right For You?

  • Couples who wish to understand their carrier statuses associated with a wide range of severe single gene diseases may consider using both expanded and whole exome carrier tests.

  • If you are already pregnant, and would like receive a carrier test report within 4-5 weeks, you may consider receiving the expanded carrier test.

  • If you have a family or personal medical history of spontaneous abortion or prenatal developmental abnormalities, you can consider receiving both expanded and whole exome carrier tests.

  • If your physician has a reason to believe that you are at risk of maternal spontaneous abortion or abnormality of prenatal development, you may consider receiving both expanded and whole exome carrier tests.

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