Claritas Clinical Exome Deletion/Duplication Analysis

Test Background

Claritas Genomics offers an add-on companion deletion/duplication analysis for its Claritas Clinical Exome (CCE) and Region of Interest (ROI) tests. When ordered with a CCE or ROI, results will be included with the CCE/ROI Report. When ordered after a CCE/ROI test is completed, results will be reported in 4-5 weeks.

Technical Details

  • An Agilent 2x400k™ custom oligonucleotide whole genome array covering 4089 genes with enhanced probe coverage on targeted genes
  • The inter-probe spacing for exonic regions is typically 30-200 bp and the inter-probe spacing for intronic/UTR or intergenic regions is 3-70 kb.
  • Each exon of the targeted genes is covered by at least 5 probes. For exons that are too small, probes are included in the flanking intronic regions (at least 500bp into the intron).
  • This array is designed to detect CNVs as small as 500 bp. Clinical sensitivity, specificity, and reproducibility is 100% for CNVs larger than 5 kb.
  • This assay does not detect balanced alterations (reciprocal translocations, Robertsonian translocations, inversions, and balanced insertions), low level mosaicism, sequence variants, methylation abnormalities, absence of heterozygosity, or uniparental disomy (UPD).
  • Note that saliva is not an accepted sample type for deletion/duplication analyses.

Region of Interest Companion Deletion/Duplication Analysis

If a deletion/duplication analysis is ordered for a Region of Interest test, only those genes that are analyzed in the sequencing portion of the assay will be analyzed for copy number variants. The test codes for individual companion deletion/duplication analyses are listed below.

  • Claritas Clinical Exome Deletion/Duplication Analysis: C0164 (CPT code 81228x1)
  • Bone Marrow Failure Region of Interest Deletion/Duplication Analysis: C0974 (CPT code 81479x1)
  • Nephrotic Syndrome Region of Interest Deletion/Duplication Analysis: C0573 (CPT code 81479x1)
  • Pediatric Neurology Region of Interest Deletion/Duplication Analysis: C0598 (CPT code 81479x1)
  • Comprehensive Immunology Region of Interest Deletion/Duplication Analysis: C0892 (CPT code 81479x1)
  • HLH Region of Interest Deletion/Duplication Analysis: N0659 (CPT code 81479x1)
  • Expand ROI Deletion/Duplication Analysis to Claritas Clinical Exome Deletion/Duplication Analysis: C0796 (81228x1)

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.