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Breakthrough Genomics  

Irvine,  CA 
United States
https://btgenomics.com
  • Booth: 1654

Breakthrough Genomics is an advanced clinical lab based in Southern California that is a leader in the clinical interpretation of genomic data.  The company provides a range of cutting-edge genetic tests and and lab services that help make precision medicine a reality.

By combining next generation computing power with the clinical expertise of a certified CAP/CLIA lab, Breakthrough Genomics genetic tests deliver high diagnostic yields with fast turnaround times.

Breakthrough Genomics’ ability to deliver “better results faster” for a wide-range of genetic tests is the result of the company’s proprietary techniques and a powerful in-house interpretation engine. 

The company’s founders have over 65 years of hands-on experience in the field of clinical genomics and have directed programs for leading institutions including Ilumina, Quest Diagnostics, and Children’s Hospital Los Angeles.

The revolutionary methodology employed by the Breakthrough Genomics’ team leverages intelligent bio-informatic architecture that is able to simultaneously analyze millions of up-to-date scientific publications and terabytes of clinical genomic data.  

Breakthrough Genomics works with healthcare providers, research institutions, and partner organizations both in the U.S. and overseas and provides a number of distinct genetic tests including:

  • Rapid Whole Genome and Whole Exome
  • Hereditary Cancer Screening 
  • Targeted Cardiovascular 
  • Rare Disease Diagnosis

Depending on the genetic test being analyzed, the Breakthrough Genomics team uses one of two proprietary AI-powered diagnostic platforms - ENLITER and VIRTUAL GENETICIST both designed to streamline the process of determining the correct diagnosis, even for the most difficult cases.

Brands: BETTER RESULTS. FASTER. This mantra is possible by leveraging the ENLITER and VIRTUAL GENETICIST platforms. The company’s PCR and Genetic Tests will soon be offered under the brand MYGENESCAN.


 Videos

Breakthrough Genomics: Virtual Geneticist - Automated Interpretation Platform
Breakthrough Genomics - Rapid WGS and WES Tests for the NICU and PICU

 Products

  • Rapid WGS and WES Tests for the NICU and PICU
    Breakthrough Genomics’ Clinical Whole Exome and Whole Genome Sequencing Tests give doctors an accurate diagnosis of thousands of genetic possibilities in only one, non-invasive test. Ask us about our High diagnostic yields and fast turnaround times....

  • Breakthrough Genomics NICU and PICU Tests offer Cutting-edge Genomic Testing with Speed and Precision


    rWES and rWGS Tests by Breakthrough Genomics offer comprehensive genetic analysis that can uncover:

    1. newly- discovered pathogenic variants'

    2. previously-unrecognized clinical conditions

    3. variants not covered in standard gene panels

    Breakthrough Genomics rWES and rWGS Tests also feature:

        - high throughput rWES and rWGS sequencing data with gene coverage up to 100x 

        - up-to-the minute analysis of the very latest scientific research and literature

        - high diagnostic yields

        - fast turnaround times

    Due to an intelligent bioinformatic architecture that ranks and prioritizes variants, Breakthrough Genomics is able to accurately pinpoint potentially pathogenic variants that are frequently missed by other labs.  

    A high-rate of diagnostic success means that patients can feel confident in their test results which can often lead to a higher chance of improved disease outcomes and treatment options.  

    Stop by Booth #1654 to see us work on hard-to-solve cases.

  • Rare Disease Diagnosis
    With fast turnaround times, high diagnostic yields, and decades of experience in the field of rare disease diagnosis, Breakthrough Genomics offers patients of all ages cutting-edge WGS and WES tests....

  • Through our WGS and WES Genetic Testing, Breakthrough Genomics provides world class analysis to help zero in any of the roughly 5600 rare genetic diseases that scientists have so far identified.  Our Comprehensive Test Results go far beyond what traditional labs offer.  

    The revolutionary methodology employed by the Breakthrough Genomics’ team leverages intelligent bio-informatic architecture that is able to simultaneously analyze millions of up-to-date scientific publications and terabytes of clinical genomic data.  

    The result is the ability to rank and pinpoint pathogenic and likely pathogenic genetic variants and to include these accurate results in our signed clinical reports.

  • Cardiovascular Screening
    Breakthrough Genomics offers 10 Targeted Cardiovascular Focus Panels covering a range of cardiovascular conditions including arrythmia, atrial fibrillation, cardiomyopathy, short QT syndrome and many others...

  • Breakthrough Genomics’ Offers 10 targeted Cardiovascular Focus Panels including:

        Aorta Panel (covers 51 genes)

        Arrhythmia Panel (covers 57 genes)

        Atrial Fibrillation Panel (covers 19 genes)

        Brugada Syndrome Panel (covers 9 genes)

        Cardiomyopathy Panel (covers 24 genes)

        Congenital Structural Heart Disease Panel (covers 62 genes)

        Dilated Cardiomyopathy (DCM) Panel (covers 69 genes)

        Short QT Syndrome (SQTS) Panel (covers 111 genes)

        CPVT Panel (covers 9 genes)

        ARVC Panel (covers 17 genes)

    Breakthrough Genomics’ Comprehensive Cardiovascular Test features accurate analysis  of nearly 200 genes that can impact cardiovascular health.  This test is recommended for individuals with a family-history of heart conditions or who are concerned about their long-term risk to develop heart disease.

  • Saliva DNA Collection Kit
    Breakthrough Genomics provides an easy-to-use and non-invasive Saliva DNA Collection Kit....

  • Powered by our proprietary bioinformatic system, Breakthrough Genomics provides a range of advanced genetic tests and testing services.  

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