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Alternate Name: |
Cytogenetics, chromosome analysis, karyotype, G-banding, fusion genes, APL, NGS, promyelocytic, BCR-ABL, p210, p190, RUNX1-RUNX1T1, AML1-ETO, CBFB-MYH11, inversion 16, ETV6-RUNX1 , TEL-AML1, TCF3-PBX1, E2A-PBX1, FLT3, NPM1, D835
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Specimen Type: |
1. Minimum 2.0mL Bone Marrow in Green Sodium Heparin Tube
2. Minimum 1.0 mL Bone Marrow in EDTA
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Storage/ Transport: |
Time sensitive test: sample must be received in the lab within 48 hrs after collection. Samples received same day give best results. Maintain sample at room temperature or refrigerate overnight if longer storage is unavoidable.
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Turnaround Time: |
Routine:
Molecular panels : 5 days
NGS panel: 3 weeks
Cytogenetics: 4 weeks
Urgent:
Molecular panels: 5 days
NGS panel: 3 weeks
Cytogenetics: 2 weeks
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Additional Information: |
A karyotype will be performed on all suspected AML diagnostic samples.
If an AML diagnosis is confirmed by flow cytometry, the Acute Leukemia Translocation Panel, BCR-ABL1 RT-PCR, Myeloid NGS panel, CEBPA and FLT3/NPM1 PCR testing will be initiated by laboratory staff.
The Acute Leukemia Translocation Panel is designed to detect the following rearrangements:
PML::RARA [Adult]
RUNX1::RUNX1T1 (alias AML1::ETO) [Adult]
CBFB::MYH11 [Adult]
ETV6::RUNX1 (alias TEL::AML1) [Pediatric]
TCF3::PBX1 (alias E2A::PBX1) [Pediatric]
Performed by RT-PCR: BCR::ABL1 (b2a2, b3a2, e1a2, e1a3, e19a2 forms) [Adult/Pediatric]
The Myeloid Next Generation Sequencing (NGS) panel targets the following regions [Adult/Pediatric]:
ASXL1 (exon 13), BCOR (full coding sequence), , BCORL1 (exon 1-12), BRAF (exon 15), CALR (exon 9), CBL (exon 8-9), CEBPA (full coding sequence), CSF3R (exon 13-17), CUX1 (exon 1-24), DDX41 (exon 1-17), DNMT3A (full coding sequence), ETV6 (exon 1-8), EZH2 (full coding sequence), FLT3 (exon 14, 15, 20), GATA2 (exon 2-6), IDH1 (exon 4), IDH2 (exon 4), JAK2 (exon 12, 14), KIT (exon 2, 8-11, 13, 17), KMT2A (full coding sequence), KRAS (exon 2, 3), MPL (exon 10), NPM1 (exon 12), NRAS (exon 2,3), PHF6 (exon 2-10), PPM1D (exon 1-6), PTPN11 (exon 3, 13), RAD21 (full coding sequence), RUNX1 (full coding sequence), SETBP1 (exon 4), SF3B1 (exon 13-16), SH2B3 (exon 1-8), SRSF2 (exon 1), STAG2 (full coding sequence), TET2 (exon 2-11), TP53 (exon 2-11), U2AF1 (exon 2, 6), WT1 (exon 7, 9), ZRSR2 (full coding sequence).
Sanger sequencing is performed to identify point mutations or small insertions/deletions within exon 1 of the CEBPA gene.
PCR testing is performed to analyze the following regions: NPM1 exon 12, FLT3-ITD (juxtamembrane domain), FLT3-D835 (kinase domain)
The FLT3 ITD and D835 assays are designed to detect the presence of a duplication within the juxtamembrane domain or nucleotide alteration at amino acid 835, respectively, in the FLT3 gene. These assays will not provide sequencing information. For any inquiries, please contact geneticsmailbox@hhsc.ca
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Test was Last Updated: |
2/27/2024
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Testing Laboratory: |
Clinical Genetics
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Testing Site: |
JHCC
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