Next-generation sequencing

Increased accuracy for clinically relevant genes

Our full menu of genetic testing provides the highest quality molecular assays available. Utilization of next-generation sequencing (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.

Next-generation sequencing Test menu

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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.

Next-generation sequencing

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.

Key testing

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Additional testing

Key testing

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