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-platform method that is unique to the industry. This “Orthogonal Approach” immediately confirms more than 90% of all exome variants, facilitating the rapid analysis, interpretation, and return of clinically-relevant results.
Results are reported back in two phases.
- The Rapid Report includes orthogonally-confirmed, clinically-relevant variants that are phenotype-related. This report is available within 4 weeks.
- The Complete Report adds variants that are Sanger-confirmed and includes select gap filling as well as the analysis of variants in regions of low coverage. This report is available in 2-8 weeks after the Rapid Report, depending on the patient’s phenotype.
Test Characteristics:
- 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 5 bp. Copy number variants and larger indels may not be detected.
Special notes:
1. This entry is for the Phenotypically-Driven Trio. See Test Code N0839 for the Proband Only Order.
2. Use Claritas’ Informed Consent document as a support resource. Patient signature must be obtained on the requisition form to note that consent has been obtained.
3. By default, Claritas Genomics investigates the ACMG56 in the patient’s DNA. 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 through the WuXi-NextCODE platform. Contact us for more details.
