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GTR Home > Tests > Comprehensive Hematology Panel

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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All NGS Panels provided by Blueprint Genetics are sliced from custom high-quality whole exome sequencing assay (xGen Exome Research Panel, IDT). Panels cover all coding exons, exon-intron boundaries (± 20 bps) and selected non-coding, deep intronic variants of the genes included in the panel unless otherwise stated in the panel description provided at our website. Our laboratory-developed test has been independently validated by Blueprint Genetics. Mean sequencing depth at exome level was 174x and 99.4% of the targeted nucleotides had >20x sequencing coverage. The sensitivity for SNVs was 99.65% (412,456/413,893) and for indels with varying length: 1-10 bps 96.9% (17070/17608), 11-20 bps 98.9% (791/800), 21-30 bps 100.0% (145/145), 31-50 bps 100.0% (19/19). By sequence analysis, the longest detected insertion and deletion were 221 and 210 base pairs, respectively. Sequencing coverage of the target regions was assessed using 31 reference samples from Coriell that were also used for SNV and indel validation. Validation of copy number variant (CNV) detection was performed using clinical samples (small CNVs, n=52) and cell line samples from Coriell (n=37). Sensitivity of small CNVs were 92.3% (24/26) for 1 exon level deletion, 100.0% (11/11) for 2 exons level CNV and 93.3% (14/15) for 3-7 exons CNV. Sensitivity of large CNVs was 100% (n=37, size range (0.01-47 Mb). In the analytic validation, specificity was >99.9% for most variant types. Additional clinical validation showed sensitivity of 100.0% for both sequence variants (n=42) and CNVs (n=63) using different sample types (dried blood spot, blood, saliva, DNA). All clinical samples represented pathogenic and likely pathogenic variants confirmed also by other laboratory assays.

Citations

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Proficiency Testing (PT)

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No

FDA Regulatory Clearances of the Test

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FDA Category Designation
Not Applicable

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