Call us for quotes at (610) 458-1112 or 
Email us at primbiobiz@primbioresearch.com
PRIMBIO
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    • Illumina NextSeq 2000
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    • RNA-seq
    • Exome Sequencing
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    • 16S Metagenomic Sequencing
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    • Colorectal Cancer Panel
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    • UTI QPCR TEST
    • COVID/FLU/RSV RT-PCR TEST
  • Get a Quote
  • Home
  • Company
    • About Us
    • Our Team
    • Publications
    • Careers
  • Technology
    • Illumina NextSeq 2000
    • Ion GeneStudio™ S5 Prime System
    • QuantStudio™ 12K PCR System
  • Research Services
    • RNA-seq
    • Exome Sequencing
    • Gene Panels
    • 16S Metagenomic Sequencing
    • Real-time qPCR
  • Clinical Tests
    • Colorectal Cancer Panel
    • Breast Cancer Therapy Panel
    • COVID-19 RT-PCR TEST
    • UTI QPCR TEST
    • COVID/FLU/RSV RT-PCR TEST
  • Get a Quote

​Exome Sequencing 

Exome sequencing targets only the protein coding regions of the genome.  The exome is estimated to cover only 1% of the genome; however, 85% of all the disease-causing mutations are believed to be in the exome.  PrimBio helps researchers and clinicians to identify SNPs and indels in the genes implicated in over 6,800 rare diseases using exome sequencing.  We offer Ampliseq Exome sequencing using patented Ampliseq technology.  Ampliseq Exome sequencing covers >19,000 coding genes and >198,000 coding exons.  In 2013, PrimBio was selected by Life Technologies as a certified ​Ampliseq Exome Service Provider.  We are one of a few companies or institutions to have been selected worldwide.  This certification validates that our services are of the highest quality and that customers can highly rely on those services.  We also offer whole exome sequencing for human and mouse DNA samples.  All Ampliseq Exome and whole exome sequencing services include library preparation, sequencing, alignment and variant calling.  In-depth bioinformatics is available upon request.
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