Molecular diagnostics in hematological disorders

Fermina M. Mazzella, Jacqueline P. Burns, Harold R. Schumacher, Carmelita J. Alvares

Research output: Contribution to journalReview articlepeer-review


Currently, the gold standards for the diagnosis and treatment of hematopoietic malignancies remain the morphologic features, karyotype and flow cytometric analysis. However, the time to correlate these standard-bearers with molecular diagnostic testing is upon us. Molecular biological techniques have, in fact, revolutionized the diagnosis and management of a wide variety of medical disorders, and have had a major impact on all medical disciplines, particularly hematology. Hematology already greatly relies on specialized molecular procedures for the diagnosis and management of patients. Molecular-genetic testing is anticipated to result in improved cytoreduction, as well as increased cure rates for these patients in the near future.

Original languageEnglish (US)
Pages (from-to)172-191
Number of pages20
JournalJournal of Clinical Ligand Assay
Issue number3
StatePublished - 2001
Externally publishedYes


  • Comparative genomic hybridization (CGH)
  • Cytogenetics
  • Fluorescence immunophenotyping and interphase cytogenetics as a tool for investigation of neoplasms (FICTION)
  • Fluorescence in situ hybridization (FISH)
  • Leukemia
  • Lymphoma
  • Microarray
  • Molecular
  • Polymerase chain reaction (PCR)
  • Serial analysis of gene expression (SAGE)

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical


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