The Hemoglobin Diagnostic Reference Laboratory at Boston Medical Center provides clinical, genetic, and laboratory correlation and consultation, and is one of only three labs in the United States to conduct hemoglobin diagnostics testing. Our laboratory is CAP and CLIA certified. We’re also an integral part of BMC's Center of Excellence in Sickle Cell Disease


Our laboratory specializes in hemoglobin and DNA-based mutational analyses to diagnose:

  • Clinically important variant hemoglobins:
    • Sickle cell anemia, e.g. Hb S, C, D, O, Quebec-Chori, S-South End
    • HPFH (hereditary persistence of fetal hemoglobin)
    • Hemolytic anemia caused by unstable variant hemoglobins
    • Thalassemia, e.g. Hb E, Malay
    • Erythrocytosis caused by high oxygen affinity variant hemoglobins
    • Low blood oxygen saturation caused by low oxygen affinity variant hemoglobins
    • Cyanosis caused by hereditary methemoglobinemias
  • Thalassemia mutations that markedly decrease or abolish globin chain production:
    • β -Thalassemias, both common and uncommon point mutations, and deletions
    • α -Thalassemias, both deletions and point mutations

Available Tests

  • DNA sequencing of alpha, beta, gamma, and delta globin genes
  • Gap-PCR for KNOWN deletions in the alpha and beta globin genes
  • MLPA (multiplex, ligation dependent, probe, amplification) for UNKNOWN deletions in the alpha or beta globin gene
  • ARMS test for mutations, QTLs, and SNPs

Laboratory Correlation and Consultation

A blood sample is required: Two tubes of EDTA-anticoagulated blood (lavender top tube, at least 5 ml), less in children.  

  • Best practice for molecular diagnostics dictates samples > 5 days old cannot be tested and will be rejected.

Requisition forms, delivery instructions and billing information for sending blood samples

If you need additional information or clarification, please email or call 617.414.5312.

CPT Codes

  • 83020   Hemoglobin fractionation and quantitation; electrophoresis
  • 83021   Hemoglobin fractionation and quantitation; chromatography
  • 81257   HBA1/HBA2 Common deletions or variants
  • 81269   HBA1/HBA2 Gene Analysis DUP/DEL Variants
  • 81259   HBA1/HBA2 Gene Analysis Full Gene Sequence  
  • 81363   HBB Duplication/Deletion Variants  
  • 81364   HBB Full Gene Sequence
  • 81479   Unlisted Molecular Procedures
  • G0452  Molecular Diagnostic Interpretation & Report

Location and Contact 

670 Albany Street 
3rd Floor Room 328 
Boston, MA 02118

Telephone: 617.414.5312  
Fax: 617.414-5315  


Director: Eric Burks, MD
Associate Director: Hong-yuan Luo, MB, PhD
Laboratory Manager: Thomas Maher, MS

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