Mayo Clinic Laboratories’ full suite of pediatric hematologic testing identifies common and rare pediatric disorders, including serious blood cancers, and provides accurate answers to inform treatment decisions. Test results can also support the placement of pediatric patients in clinical trials. Our clinically meaningful testing was developed by a team of multidisciplinary experts and built around the needs of young patients, providing answers to help set patients on the path toward healing.
Our Children's Oncology Group works to establish relationships with care providers, clinical research assistants, and clinical staff to provide the best patient care. Our physicians offer test-ordering recommendations and provide trusted opinions on a case-by-case basis. Because of our large COG test volumes, we employ a dedicated COG team with laboratorians, technical specialists, and laboratory directors focused on pediatric patient cases. Offering more than test results, our Children’s Oncology Group testing services include:
Review and submission of all COG paperwork for approval in clinical trials.
Testing on all specimen types, including bone marrow, blood, formalin-fixed paraffin-embedded tissue, and more.
Customized, interpretive reports for even the most complex cases.
In this month's "Hot Topic," Patricia Greipp, D.O., discusses fluorescence in situ hybridization, or FISH testing, particularly related to pediatric patients with hematologic malignancies.
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Chromosome analysis
Chromosome testing can reveal genetic causes of pediatric hematological disorders, facilitating diagnosis and classification of the illness.
Our 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.
Detecting a neoplastic clone associated with the common chromosome abnormalities and classic rearrangements seen in infant patients with leukemia using tissue specimens.
Myeloid neoplasms
Our leukemia test menu includes flow cytometry, chromosome, FISH, and molecular testing. We provide accurate results and expert interpretation from a highly focused team of laboratory specialists.
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 tests FLT and IDHQ is strongly recommended to expedite test results and help guide patient management.
Evaluates 11 genes of clinical significance for the prognosis, subclassification, and management of patients presenting with a new, relapsed, or refractory acute myeloid leukemia.
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.
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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Red blood cell disorders
Because the incidence of distinct red blood cell disorders can vary from common to rare, cases are signed out by board-certified hematopathologists who use comprehensive algorithmic panels to help guide appropriate testing choices and minimize unnecessary assays.
Incorporates all testing related to nonimmune hemolytic anemia, including assays for unstable hemoglobin variants, red blood cell enzyme abnormalities, and red blood cell membrane disorders. It assumes a previous negative direct antiglobulin test (DAT) result.
A reflexive evaluation for the identification of hemoglobin variants and beta thalassemias. The degree and complexity of testing is determined by the nature of the case, including the rarity of the hemoglobin variants present.
Evaluates patients with unexplained microcytosis, suspected alpha thalassemia, or complex hemoglobinopathy/thalassemia disorders undetectable by electrophoresis alone. This evaluation also detects hemoglobin variants responsible for microcytosis (e.g., hemoglobins E or Lepore).
Comprehensive panel evaluates genes associated with hereditary (congenital) causes of hemolytic anemia. Symptoms should be long-standing or familial in nature.
