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Performance Characteristics



  • Entire test performed in-house

Analytical Validity


Analytical Sensitivity 99-100% Accuracy 100% Precision 100%


Not provided

Assay Limitation(s)


This assay covers the coding and immediate flanking regions of the included genes. Variants in the promoter region and in other non-coding regions will not be detected. Variants that occur within regions of high homology and/or repetitiveness may not be detected due to issues with alignment. The technical sensitivity of this test is estimated to be >99% for single nucleotide changes and insertions and deletions of less than 20bp. Our CNV detection algorithm was developed and its performance determined for the sole purpose of identifying deletions and duplications within the coding region of the gene(s) tested. The sensitivity for detection of CNVs including 3 exons or larger is ~95% but may vary from gene-to-gene based on exon size, characteristics of the region and depth of sequencing coverage. The sensitivity for detection of CNVs smaller than 3 exons is estimated to be lower (~75-80%). CNVs occurring in regions of high homology (pseudogenes; segmental duplications) will not be detected. This methodology may not detect low level mosaicism, balanced translocations, inversions, trinucleotide repeat expansion that may be responsible for the clinical phenotype.

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Method used for proficiency testingHelp
Formal PT program
PT ProviderHelp
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

FDA Regulatory Clearances of the Test

FDA Category Designation
FDA exercises enforcement discretion

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