Diagnosis; Prognostic; Risk Assessment; Screening

Avoidance of invasive testing

Establish or confirm diagnosis

Guidance for management

Lifestyle planning

Risk for pancreatic disease and comorbidities including hyperlipidemia, gallstone, celiac disease, pancreatic cancer polygenic risk score, diabetes polygenic risk score, pancreatic acinar cell dysfunction, pancreatic ductal cell dysfunction.

Sequencing Confirmation

Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed at an outside lab

Test performance comments
Ariel Precision Medicine 5750 Centre Ave Suite 270 Pittsburgh PA 15206 Eremid Genomic Services, LLC 150 N. Research campus Drive Kannapolis, NC 28081

Core metrics include sensitivity, specificity, and concordance. Pre-specified validation metrics require these to be calculated for each variant type, including single nucleotide variations (SNV), insertion/deletion variants (INDEL), and copy-number variants (CNV). All of these metrics were expected to perform at a minimum of 95% or greater. High-confidence SNV and INDEL … Core metrics include sensitivity, specificity, and concordance. Pre-specified validation metrics require these to be calculated for each variant type, including single nucleotide variations (SNV), insertion/deletion variants (INDEL), and copy-number variants (CNV). All of these metrics were expected to perform at a minimum of 95% or greater. High-confidence SNV and INDEL calls are available from version 4.2.1 of the NIST high-confidence calls for NA12878, which were used for the overall calculations shown in tables Table 2 and Table 3. We found that sensitivity and specificity were within expectations for SNV and INDELs. Table 2 shows array performance within the intersection of NIST NA12878 high-confidence regions and high-quality array calls. The NA12878 sample was not included in the fourth batch, thus these results are reflective of the first three batches. Metrics across all runs were: • Sensitivity: 97.46 (94.69-100) • Specificity: 99.84 (99.68-100) • PPV: 0.99 (0.98-0.99) • NPV: 1 (1-1) ID Batch 1 SNV Batch 1 InDel Batch 2 SNV Batch 2 InDel Batch 3 SNV Batch 3 InDel Table 2: Array Performance Metrics (Full Panel) True Positive Variants (N) 247879 8290 248092 8291 246652 8216 Sensitivity (%) 99.85 95.06 99.87 95.06 99.85 95.04 Specificity (%) 99.67 99.97 99.82 99.98 99.64 99.97 PPV NPV 0.99 1 0.98 1 0.99 1 0.99 1 0.99 1 0.98 1 View more

SNP data may be limited compared to sequencing and comprehensive gene testing because it does not provide discovery

Is proficiency testing performed for this test? Help
No

Description of internal test validation method: Help
Core metrics include sensitivity, specificity, and concordance. Pre-specified validation metrics require these to be calculated for each variant type, including single nucleotide variations (SNV), insertion/deletion variants (INDEL), and copy-number variants (CNV). All of these metrics were expected to perform at a minimum of 95% or greater. High-confidence SNV and INDEL … Core metrics include sensitivity, specificity, and concordance. Pre-specified validation metrics require these to be calculated for each variant type, including single nucleotide variations (SNV), insertion/deletion variants (INDEL), and copy-number variants (CNV). All of these metrics were expected to perform at a minimum of 95% or greater. High-confidence SNV and INDEL calls are available from version 4.2.1 of the NIST high-confidence calls for NA12878, which were used for the overall calculations shown in tables Table 2 and Table 3. We found that sensitivity and specificity were within expectations for SNV and INDELs. Table 2 shows array performance within the intersection of NIST NA12878 high-confidence regions and high-quality array calls. The NA12878 sample was not included in the fourth batch, thus these results are reflective of the first three batches. Metrics across all runs were: • Sensitivity: 97.46 (94.69-100) • Specificity: 99.84 (99.68-100) • PPV: 0.99 (0.98-0.99) • NPV: 1 (1-1) ID Batch 1 SNV Batch 1 InDel Batch 2 SNV Batch 2 InDel Batch 3 SNV Batch 3 InDel Table 2: Array Performance Metrics (Full Panel) True Positive Variants (N) 247879 8290 248092 8291 246652 8216 Sensitivity (%) 99.85 95.06 99.87 95.06 99.85 95.04 Specificity (%) 99.67 99.97 99.82 99.98 99.64 99.97 PPV NPV 0.99 1 0.98 1 0.99 1 0.99 1 0.99 1 0.98 1 View more