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.
- Encompasses approximately 97% of the entire exonic coding region at >20X coverage (mean coverage of 100X)
- Orthogonal approach using Illumina NextSeq with immediate confirmation of 90% of variants on the LIFE Ion Proton
- Remaining 10% of variants are Sanger sequenced so that all reported variants are confirmed
- Typical mean coverage is greater than 100X for both the Illumina NextSeq and LIFE Ion Proton systems
- 99.0% sensitivity and 99.5% positive predictive value
- Protein coding sequences and 10 bp of adjacent intronic sequences are analyzed
- This assay will detect SNVs, insertions, and deletions less than 10 bp. Copy number variants and larger indels may not be detected.
1. This entry is for the Trio which includes testing for the proband and the biological parents. See Test Code N0889 for the Proband Only Order.
2. Use Claritas’ Informed Consent document as a support resource for discussing the Claritas Clinical Exome.
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). Only those findings that are identified in the patient will be evaluated in the parental samples. The proband and the parent(s) may choose to opt-out of having the ACMG56 evaluated. See the Informed Consent signature page on the requisition form for more details. Note that if the proband opts out, the parent samples will not be evaluated for the ACMG56.
4. Interactive variant browsing is available via the WuXi NextCODE platform. Ordering providers may also request BAMs or VCFs of a patient’s data. Contact us for more details.
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. Pediatric Neurology Trio- test code N0481. Proband only- test code N0883).
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.