AML Rapid Mutation Panel

Casandra

Casandra Test Code QD40464Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 12346

AML Rapid Mutation Panel

Clinical Use

Use

This panel interrogates 7 genes (FLT3, IDH1/IDH2, CEBPA, KIT, NPM1, TP53) for clinically significant mutations associated with treatment selection and/or prognosis in acute myeloid leukemia (AML). FLT3 mutations (ITDs and TKD) correlate with poor outcomes but may qualify patients for FDA‑approved targeted therapy (midostaurin). Gain‑of‑function mutations in IDH1/IDH2 are frequent in AML and associated with unfavorable prognosis; IDH inhibitors are FDA‑approved for mutated AML. CEBPA biallelic mutations suggest improved outcomes; KIT mutations indicate poorer prognosis in CBF‑AML; NPM1 mutations may predict favorable response; TP53 mutations indicate poor outcomes and complex karyotypes.

Special Instructions

Not provided.

Limitations

Analytical sensitivity varies: FLT3 by PCR/fragment analysis detects to ~5% mutant allele fraction; IDH1/IDH2 by Sanger sequencing detects to ~20%; NGS for CEBPA, KIT, NPM1, TP53 detects SNVs and indels to ~5%, per AMP/ACMG, benign variants are not reported.

Test Details

Methodology

NGS

Biomarkers

Sequencing-based testing of FLT3 by PCR and fragment analysis, IDH1/IDH2 by Sanger sequencing, and CEBPA, KIT, NPM1, TP53 by NGS in a single workflow.

AML Rapid Mutation Panel