AML Mutation Profiling and Interpretation
Label Mnemonic: AML
Epic Lab Code: LAB8288
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Peripheral Blood
Specimen Instructions:
Testing requires dedicated collection tube.
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
2 mL peripheral blood in EDTA (lavender tube).
Rejection Criteria:
Tumor specimens containing less than 20% tumor cells may be unacceptable.
Testing Schedule:
Weekly
Turn Around Time:
21 days
Comments:
The AML Mutation Profiling test is a massively parallel next generation DNA sequencing-based assay that targets commonly mutated or hotspot regions of 30 AML cancer-related genes.

Genes Assessed:
NPM1, RUNX1, CEBPA, GATA2, KIT, CBL, JAK2, KRAS, NRAS, HRAS, BRAF, TP53, PHF6, NF1, PTEN, PTPN11, WT1, DNMT3A, TET2, IDH1, IDH2, MLL, ASXL1, EZH2, ZRSR2, SF3B1, SRSF2, U2AF1, SETBP1.
Methodology:
Massively parallel Next Generation DNA sequencing by synthesis, semiconductor technology, Ion Personal Genomics Machine
CPT Code:
81450