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.
Specialties
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 that samples greater than 5 days old cannot be tested and will be rejected.
- The requisition form, along with delivery instructions and billing information for sending blood samples, can be downloaded below.
Please email or call if you need additional information or clarification.
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
Our Team
Eric J. Burks, MD, Director
Associate Professor of Pathology, Boston University Chobanian & Avedisian School of Medicine
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Hong-yuan Luo, MB, PhD, Associate Director
Thomas A. Maher, MS, Laboratory Manager
Assistant Professor of Pathology & Laboratory Medicine, Boston University Chobanian & Avedisian School of Medicine
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Location and Contact
670 Albany Street, 3rd Floor, Room 328, Boston, MA 02118
Fax: 617.414.5315