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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

Additional testing

More information

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

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 panel testing (NGAML or NGAMT). 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.

View now Hematology, oncology, and hereditary test selection guide

Highlights

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.

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Additional testing

Key testing

Highlights

Assay provides quick diagnosis of VEXAS syndrome: David S. Viswanatha, M.D.

David S. Viswanatha, M.D., explains how Mayo Clinic Laboratories' new assay provides rapid, definitive diagnosis of VEXAS, a recently identified syndrome affecting older men. Early diagnosis is key to managing the syndrome, which severely impacts multiple organs and blood.

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A novel testing approach for newly identified VEXAS syndrome

VEXAS syndrome is a severe autoinflammatory disease that results in a spectrum of rheumatologic and hematologic conditions. The underlying cause of newly identified VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome — somatic mutations in the UBA1 gene of blood cells — was discovered at the National Institutes of Health (NIH) in 2020. Within six months, Mayo Clinic Laboratories was able to add a UBA1 test to the MayoComplete panel, as the team simultaneously worked on a single gene assay to allow doctors to test specifically for UBA1 mutations to screen patients for VEXAS syndrome. The team opted for a droplet digital PCR test — a novel and highly accurate approach to testing for UBA1 gene mutations.

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