NGS Testing

OncoHeme Next-Generation Sequencing Test

ngshm-ashMany hematologic neoplasms are characterized by morphologic or phenotypic similarities but can have characteristic somatic mutations in many genes. In addition, many myeloid neoplasms lack a clonal cytogenetic finding at diagnosis (normal karyotype) but can be diagnosed and classified according to gene mutation profile. The presence and pattern of gene mutations can provide critical diagnostic, prognostic, and sometimes therapeutic information for the managing physicians.


Next-Generation Sequencing (NGS), Acute Myeloid Leukemia, 8-Gene Panel

This test is useful for the Evaluation of acute myeloid leukemia (AML) at the time of diagnosis, to assist in appropriate classification and prognosis. This test can also be used at the time of AML relapse to determine if a different gene mutation profile is present



Structural Variant Characterization by NGS

Mate-pair sequencing is a next-generation sequencing technology that can aid in the further characterization of chromosome abnormalities by sequencing the entire genome and bioinformatically mapping these sequences to create a comprehensive structural map.




Multiple Myeloma

Mayo Algorithmic Approach for Stratification of Myeloma and Risk-Adapted Therapy Report

Multiple myeloma is increasingly recognized as more than one disease, characterized by marked cytogenetic, molecular, and proliferative heterogeneity.

The Mayo Stratification for Myeloma and Risk-Adapted Therapy (mSMART) algorithm stratifies patients into low, intermediate, standard or high-risk categories. This genetically determined risk classification also plays an important role
in individualizing a patient’s treatment strategy



Myeloproliferative Neoplasm (MPN)

Myeloproliferative Neoplasm (MPN), JAK2 V617F with Reflex to CALR and MPL

Myeloproliferative neoplasm is a neoplasm of the hematopoietic stem cells. It is associated with effective hematopoietic proliferation, and the bone marrow cells successfully make it into the peripheral blood, resulting in peripheral blood cytosis. MPN patients usually present with a hypercellular bone marrow and peripheral blood cytosis. Organomegaly is present or absent. Myelofibrosis is common, whereas dysplasia is usually not evident. MPN is further subclassfied on the basis of the dominant cell line involved.




Myelodysplastic Syndromes

Myelodysplastic Syndrome by Flow Cytometry

Myelodysplastic syndromes (MDS) encompass a heterogeneous group of clonal hematopoietic neoplasms characterized by cytopenias due to ineffective hematopoiesis, variable degrees of dysmyelopoietic morphologic features, and increased risks of evolution to acute myeloid leukemia. Per 2008 World Health Organization recommendations, a definitive diagnosis of MDS requires identification of 1 or more of the following findings: clear-cut morphologic features of dysplasia in > or =10% of the cells in 1 or more of the 3 hematopoietic lineages; increased (but <20%) blood or marrow blasts with or without Auer rods; and well-characterized clonal cytogenetic abnormalities.




Esoteric Platelet Testing

Platelet Transmission Electron Microscopic Study

Platelet transmission electron microscopy (PTEM) has been an essential tool for laboratory diagnosis of various hereditary platelet disorders since it was first used to visualize fibrin-platelet clot formation in 1955. PTEM employs 2 main methods to visualize platelet ultrastructure, whole mount (WM) TEM and thin section (TS) TEM. WM-TEM is considered the gold standard test for diagnosing dense granule deficiencies in Hermansky-Pudlak syndrome, alpha-delta platelet storage pool deficiency, Paris-Trousseus-Jacobsen syndrome, Wiskott-Aldrich syndrome, TAR (thrombocytopenia, absent radii) syndrome, Chediak-Higashi syndrome, and more.


Platelet Surface Glycoprotein by Flow Cytometry

Platelet flow cytometric analysis is the preferred method to assess hereditary platelet disorders due to quantitative surface glycoprotein (GP) deficiencies. GP expression levels can be measured by using fluorescent-conjugated GP-specific antibodies and their fluorescent intensities can be compared to normal ranges of various glycoproteins.




Hematopathology & Cytogenetics

Advancing the Diagnosis and Management of Hematologic Disorders

Our comprehensive test menu has been created to aid in the diagnosis and treatment selection across the full spectrum of hematologic disorders. Through our clinical experience, we have developed and validated practice-based, data-driven algorithms that improve patient care, increase efficiency, and reduce costs.





Comprehensive Testing Approaches Driven by Mayo Clinic Practice and Research

The Mayo Clinic Special Coagulation Laboratory has been at the forefront of patient-centered and value-based diagnostic laboratory testing, research and patient management for nearly 90 years. Led by a multidisciplinary team of physicians, the laboratory offers a comprehensive repertoire of coagulation tests covering a wide spectrum of bleeding and thrombotic disorders.




Benign Hematology

Testing to Diagnose and Manage Hemoglobin and Red Blood Cell Abnormalities

The Mayo Clinic Metabolic Hematology Laboratory is dedicated to providing accurate diagnoses and interpretations with an emphasis on its clinical significance for your patients. Our cases are signed out by board-certified hematopathologists in the context of comprehensive, algorithmic panels, which guide laboratory testing choices to address a specific clinical question.

Because the incidence of distinct red blood cell disorders varies from common to very rare, these reflexive algorithms guide appropriate testing and minimize unnecessary assays.