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
- 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.
- Use Claritas’ Informed Consent document as a support resource.
- 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.
- Providers may choose to order the CCE companion deletion/duplication analysis (Test Code C0164).
- 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
- 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.
- Providers may request a review of variant classification at any time.
- 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.
- 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.
