Next-generation sequencing for acute myeloid leukemias

Increased accuracy for clinically relevant genes

The presence and pattern of gene mutations in a known or suspected hematologic neoplasm can provide critical diagnostic, prognostic, and therapeutic information for physicians. While many hematologic neoplasms show morphologic or phenotypic similarities, most harbor a distinct composition of somatic gene mutations. In addition, many myeloid neoplasms lack a clonal bone marrow cytogenetic finding at diagnosis (normal karyotype) but can be better characterized with the aid of a sufficiently comprehensive gene mutation profile.

Mayo Clinic Laboratories next-generation sequencing (NGS) delivers answers, not just results. Our full menu of genetic testing provides the highest quality molecular assays available. Utilization of NGS in our profiles enables better technical resolution of complex somatic variants, providing precision insights to facilitate diagnosis, prognosis, and therapeutic management. Our comprehensive, 47-gene MayoComplete panel and our focused acute myeloid leukemia (AML) subpanels give clinicians the flexibility to order the right tests for their patients.

Learn more about our full suite of MayoComplete next-generation sequencing panels for hematologic and oncologic conditions.

Key testing

NGSHM | MayoComplete, Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing, Varies

  • Evaluates 47 genes to gain insights on hematologic neoplasms, specifically of myeloid origin at the time of diagnosis, disease relapse or progression; useful for evaluating unexplained, abnormal blood count findings.
  • For AML reason for referral, ordering stand-alone test FLT and IDHQ is strongly recommended to expedite test results and help guide patient management.

NGAML | MayoComplete Acute Myeloid Leukemia NGS Panel, Varies

  • Evaluates 11 genes of clinical significance for the prognosis, subclassification, and management of patients presenting with a new, relapsed, or refractory acute myeloid leukemia.

NGAMT | MayoComplete Acute Myeloid Leukemia, Therapeutic Gene Mutation Panel (FLT3, IDH1, IDH2, TP53), Next-Generation Sequencing, Varies

  • Analyzes four genes to assist in evaluating patients at the time of diagnosis, relapse, or refractory disease to help determine optimal and targeted therapeutic approaches.

NGSFX | Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes

  • Reanalyzes remaining genes and gene regions from the 47-gene NGSHM panel within six months of focused genetic panels testing (NGAML or NGAMT). NGSFX testing available on NGAML or NGAMT testing ordered on 10/24/22 or later. The bioinformatics and variant review are performed only for the added gene regions.
  • Allows for a greater understanding of the disease present without having to send an additional sample for testing.

Additional tests

CHRBM | Chromosome Analysis, Hematologic Disorders, Bone Marrow

FLT | FLT3 Mutation Analysis, Varies

IDHQ | IDH1 (R132) and IDH2 (R140 and R172) Quantitative Detection, Droplet Digital PCR, Varies

MYEFL | Myelodysplastic Syndrome by Flow Cytometry, Bone Marrow

NGS for Myeloid Neoplasm Evaluation

In this month's "Hot Topic," David Viswanatha, M.D., discusses updates to Mayo Clinic's next-generation sequencing (NGS) for myeloid neoplasm evaluation, involving new test targets, the rationale for new genetic regions, alignments with the World Health Organization (WHO) guidelines and germline predisposition targets.

Learn more

Better testing, better outcomes

Our next-generation sequencing assays not only provide individualized answers for personalized care, but offer numerous advantages, including:

  • Following updated World Health Organization (WHO) and International Consensus Classification (ICC) working groups, and the European Leukemia Network (ELN) guidelines for AML, for genes of clinical significance.
  • Providing definitive assessment and identification of patients with somatic alterations (CCUS) with variable risk of progress to overt myeloid neoplasms with concurrent assessment for specific germline variants predisposing to myeloid neoplasm. Mayo Clinic’s comprehensive panel of 47 genes includes BCORL1, BRAF, NF1, PPM1D, STAT3, and UBA1.
  • Assisting with diagnostic classification and providing prognostic and/or therapeutic information for clinical management.
  • Offering a high depth of sequence coverage with relevant genetic targets for improved tumor characterization, helping guide decisions on optimal treatments including targeted therapeutic agents and immunotherapies.
  • Providing improved analytical accuracy and sensitivity of 2% with detection levels of 5% allele fraction for single nucleotide variants, deletions, and insertions.
  • Results reviewed and interpreted by experienced Mayo Clinic hematopathologists and genetic counselors, all with extensive expertise.

Full access to Mayo Clinic expertise

  • The Mayo Clinic Molecular Hematopathology Laboratory is led by expert hematopathologists who focus on molecular diagnostics and interpretation of hematologic disorders.
  • Our board-certified hematopathologists sign out cases in the context of comprehensive result interpretation of clinically relevant genes. Patient history and other additional testing are also reviewed for a correlated result.
  • Our physicians, laboratorians, variant scientists, and genetic counselors are available to answer all questions pertaining to testing options, results interpretation, or case review and coordination.
  • Our testing specialists and genetic counselors are available to discuss specific cases and verify test coverage.

Learn more about how to order these evaluations at your institution.