Heme Gene Panel by NGS

General Information

Lab Name

Heme Gene Panel by NGS

Lab Code

HCAPA

Epic Name

Heme Gene Panel by NGS

Description

This assay is a multiplexed gene sequencing panel designed to detect mutations associated with hematologic myeloid and lymphoid disorders. Purified genomic DNA is enzymatically sheared and targeted sequences are isolated by hybrid capture probes and sequenced by using an Illumina NGS platform.

This assay will not detect variants if present in only a small proportion of cells in the sample. If indicated, additional testing for FLT3-ITD and CEBPA mutations for new evaluation of acute myeloid leukemia should be separately ordered.

This assay is not intended for post-treatment disease monitoring nor comprehensive germline evaluation and is not validated to detect all classes of genomic alterations, such as large structural events including fusions and copy alterations.

If indicated, separate panel-based testing can be performed for myeloid-focused genes (HCAPMY) or lymphoid-focused genes (HCAPL). This assay is focused on hematologic disorders; for solid tumor testing, consider UW-Oncoplex testing.

SNV
Limit of Detection: 3%
Limit of Quantification: 4%
Precision near LOD (CV): 20%
Accuracy: 100% of expected variants

INDELS
Limit of Detection: 3%
Limit of Quantification: Qualitative Only
Precision near LOD (CV): 20%
Accuracy: 98% of expected insertions/deletions

Hematopathology test request form can be found at Request Form

Synonyms

ABL1 (exons 01-11), Acute myeloid leukemia, ALK (exons 01-29), ANKRD26 (exons 01-34), ASXL1 (exons 01-12), ATM (exons 02-63), B cell lymphoma, B lymphoblastic leukemia, BCL2 (exons 02-03), BCOR (exons 02-15), BCORL1 (exons 01-12), BIRC3 (exons 03-10), BRAF (exons 01-18), BTK (exons 02-19), CARD11 (exons 02-25), CBL (exons 01-16), CBLB (exons 01-19), CCND1 (exons 01-05), CD19 (exons 01-15), CD274 (exons 02-07), CD74 (exons 01-09), CD79B (exons 01-06), CDKN2A (exons 01-03), chronic lymphocytic leukemia, CSF3R (exons 03-17), CXCR4 (exons 01-02), DDX41 (exons 01-17), DNMT3A (exons 02-23), EP300 (exons 01-31), essential thrombocythemia, ETNK1 (exons 01-08), ETV6 (exons 01-08), EZH2 (exons 02-20), FBXW7 (exons 02-12), FGFR1 exons (02-18), FLT3 (exons 01-24), GATA1 (exons 01-06), GATA2 (exons 02-06), HRAS (exons 02-06), IDH1 (exons 03-10), IDH2 (exons 01-11), JAK2 (exons 03-25), KIT (exons 01-21), KMT2A (exons 01-36), KMT2D (exons 01-54), KRAS (exons 02-05), lymphoplasmacytic lymphoma, MAP2K1 (exons 01-11), marginal zone lymphoma, marrow failure, mastocytosis, MDS, MPL exons (01-12), MPN, MYC (exons 01-03), MYD88 (exons 01-05), myelodysplasia, myeloid stem cell neoplasm, myeloproliferative neoplasms, NF1 (exons 01-57), NOTCH1 (exons 01-34), NOTCH2 (exons 01-22), NPM1 (exons 01-11), NRAS (exons 02-05), PDGFRA (exons 02-23), PDGFRB (exons 02-23), PHF6 (exons 02-10), PLCG2 (exons 02-33), polycythemia vera, PPM1D (exons 01-06), primary myelofibrosis, PTEN (exons 01-09), PTPN11 (exons 01-15), RAD21 (exons 02-14), RB1 (exons 01-27), RHOA (exons 02-05), RUNX1 (exons 01-09), SAMD9 (exons 01-03), SAMD9L (exon 05), SETBP1 (exons 02-06), SF3B1 (exons 01-25), SH2B3 (exons 02-08), SMC1A (exons 01-25), SMC3 (exons 01-29), SRSF2 (exons 01-02), STAG2 (exons 02-33), STAT3 (exons 02-24), STAT5B (exons 02-19), STAT6 (exons 02-22), T lymphoblastic leukemia, TCF3 (exons 02-19), TET2 (exons 02-11), TNFAIP3 (exons 02-09), TNFRSF14 (exons 01-08), TP53 (exons 02-11), U2AF1 (exons 01-08), WT1 (exons 01-10), XPO1 (exons 02-25), ZRSR2 (exons 01-11)

Components

Code	Name
HCAPAS	Heme Gene Panel Specimen Description
HCAPAR	Heme Gene Panel Result
HCAPAI	Heme Gene Panel Interpretation
HCREV	Results Reviewed by:
HCAPAG	Heme Genes Sequenced
HCAPAM	Heme Gene Panel Method
HCAGRN	Heme Gene Panel Case Number