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 |
Interpretation
Method
Next-Generation Sequencing
Reference Range
See individual components
Ordering & Collection
Specimen Type
Collection
Preferred:
Blood: 6mL in Lavender Top (EDTA)
Bone Marrow: 1-2mL in Lavender Top (EDTA)
Tissue, Fluids or Sorted cells: Sterile container in RPMI
Formalin-fixed paraffin embedded tissue (FFPE/PET) block
Slides: 10 unstained
Accepted:
Green Tops (Heparin), while green tops are accepted for testing, there is documentation that heparin can interfere with some PCR assays.
Extracted DNA from CLIA certified laboratory.
Formalin-fixed paraffin embedded tissue (FFPE/PET)
Tissue from curls cut from FFPE/PET blocks or stained cover-slipped slides
Unacceptable:
Specimens received beyond stability limit.
Specimens with low volume or inadequate WBC
Decalcified or unacceptable fixatives
Handling Instructions
- Deliver samples to Hematopathology as soon as possible.
- If sample is older than 48 hours, please store at 2-6°C upon receipt and send refrigerated.
- Samples stored at room temperature or refrigerated older than 7 days will be rejected.
- Frozen samples should be shipped on dry ice.
Quantity
requested: Blood: 6mL EDTA/BMA: 1-2mL EDTA/Tissue Blocks: Adequate size to cut 10-20 curls/Slides: 10 unstained
minimum: Blood: 1mL EDTA/ BMA: 0.5mL EDTA/Tissue Blocks: 5 curls/Slides: 5 slides
Processing
Send specimens to Hematopathology – Molecular department for processing.
The stability limit for Blood and Bone Marrow is 7 days, samples beyond this limit will be rejected.
Blood and BMA must arrive in lab by 7am and tissue by 12pm Friday to be included on Monday run.
Performance
LIS Dept Code
Molecular Hematopathology (MHP)
Performing Location(s)
| Other |
Hematopathology, Molecular
206-606-7060 UW Hematopathology Laboratory, G7-800 |
Hematopathology, Molecular hours: |
|---|
Frequency
Monday: Results within 12 - 14 days from start of testing. Cases requiring repeat testing, review, or addressing other considerations may have a delay of ~ 12 additional days.
Available STAT?
No