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Analytes/procedures in bold type are regulated for proficiency testing by the Centers for Medicare & Medicaid Services (CMS).

Analyte/Procedure Challenges per Shipment Number of Activities
Trio (parents and proband) exome analysis for germline undiagnosed disorders 3 Two online activities per year

Additional Information/Minimum Requirements

  • This in silico based program will assess the ability of the laboratory to identify germline variants responsible for a provided clinical phenotype as is encountered in an undiagnosed disease scenario. In addition to analyzing the in silico mutagenized file to identify a genetic diagnosis for the provided clinical scenario, pathogenic or likely pathogenic ACMG secondary findings may also be reported.
  • Laboratories must provide exome sequencing data files (FASTQs or unaligned BAMs) that have been generated using their current clinical sequencing protocols from one of the following Genome in a Bottle Consortium trio sources: The Ashkenazi Jewish trio (Coriell IDs GM24385, GM24149, and GM24143 or NIST RM8392) or the Han Chinese trio (Coriell IDs GM24631, GM24694, and GM24695). All exome files must be from the same trio (Ashkenazi Jewish or Han Chinese). Specimens from the NGS, NGSST, and NGSHM programs or additional Coriell/Genome in a Bottle Consortium sources cannot be used for this program.
  • FASTQs or unaligned BAMs must be submitted along with a BED file describing the regions targeted and interrogated by your laboratory. Additionally, more than 90% of exons targeted and interrogated by your laboratory must have a minimum read coverage of 10X.
  • Laboratories can transfer and download files from most modern browsers/ operating systems. For the most up-to-date information on system requirements, go to and click Browser and Operating System Requirements, located at the bottom of the homepage.
  • Due to the extremely large file sizes, a minimum allowable transfer speed of 40 Mbps or higher is needed to ensure successful transfer of your laboratory's sequencing files to the CAP. Contact your IT department for allowable transfer speeds to determine estimated transfer time and browser/operating system access.
  • Laboratories must comply with all of the above requirements to participate in this program. Additional information and steps to provide your laboratory's exome file will be included in the kit materials.

Program Information

  • Three exome sequencing data file (1 from each parent plus the proband), originating from your laboratory and provided to the CAP, for in silico mutagenesis. The mutagenized exome sequencing data file is to be downloaded and analyzed by your bioinformatics pipeline
  • The mutagenized exome sequencing file will be accompanied by a clinical history, relevant laboratory data, and results of ancillary studies, where appropriate
  • Your CAP shipping contact will be notified via email when the activity is available

Shipping Schedule

  • Shipment A: May 8
  • Shipment B: October 9

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