Test Background

The Claritas Clinical Exome is a first line test for a patient with complex syndromic features. It can also be the next step for a patient with complex syndromic features when no other testing has uncovered a molecular explanation for the patient’s medical issues. This test is ideal for patients who have conditions with genetic and phenotypic heterogeneity where a single gene test may not fully assay all causes.

The Claritas Clinical Exome uses an innovative dual-capture, dual sequencing platform method that is unique to the industry. This “Orthogonal Approach” simultaneously confirms ~95% of all exome variants, providing the highest confidence clinical results.

Test Characteristics

  • 99.0% sensitivity and 99.998% positive predictive value
  • Orthogonal approach using Illumina NextSeq™ with simultaneous confirmation of 95% of variants on the LIFE Ion Proton™
  • Remaining 5% of variants are Sanger sequenced so that all reported variants are confirmed
  • Mean coverage of >100x for both the Illumina NextSeq and LIFE Ion Proton
  • Protein coding sequences and 10 bp of adjacent intronic sequences are analyzed
  • This assay detects SNVs, insertions, and deletions less than 10 bp
  • Adding the companion deletion/duplication analysis (test code C0164) increases detection rate for copy number variants and larger indels.

Special notes

  1. This entry is for the Proband-Only Order. See Test Code N0560 for the Trio order, which includes testing of the proband and biological parents.
  2. Use Claritas’ Informed Consent document as a support resource.
  3. By default, Claritas Genomics investigates the ACMG56 (a list of 56 genes recommended by the American College of Genetics and Genomics, variants that can lead to health issues and have evidence-based management and/or treatment plans). The patient has the option to opt-out on the Informed Consent signature document, which is part of the requisition form.
  4. Providers may choose to order the CCE companion deletion/duplication analysis (Test Code C0164).
  5. Providers whose patients require quicker results may order phenotypically-driven, exome-based Regions of Interest where initial results are returned within 5 weeks (See the test menu for a complete listing of ROIs).

Additional Service Highlights

  1. Providers may request a reanalysis of a patient’s case. The first reanalysis is performed at no charge when the request is made within 2 years of the date that the report was issued.
  2. Providers may request a review of variant classification at any time.
  3. Providers may access the Interpretative Genomics Service at Boston Children’s Hospital, which provides consultation with experts in genes and/or phenotypes. Please contact [email protected] for more information.
  4. Claritas Genomics will release raw data files or provide access to txome data via NextCODE to authorized health care providers. Review Data Return Program details here.

Vital Information

Test Code:

Turnaround Time:
12-14 weeks

CPT Code:


Forms and Documents