Beta Hemoglobin DNA Sequencing

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General Information

Lab Name
Beta Hemoglobin DNA Sequence
Lab Code
Epic Ordering
Beta Hemoglobin DNA Sequence

There are currently over 800 hemoglobin variants catalogued, of which approximately 500 are due to mutations in the beta-globin gene. In addition, approximately 95% of beta-thalassemia is caused by point mutations. This test, which sequences the coding regions and introns of the beta-globin gene (HBB) in both directions, identifies hemoglobin variants that are not easily diagnosed by electrophoresis/HPLC and can determine the cause of beta-thalassemia.

Indications for testing include:

  • Identification of hemoglobin variants detected by electrophoresis or HPLC
  • Differential diagnosis of microcytic anemia
  • Molecular characterization of beta-thalassemia mutations
  • Testing of a relative of an individual with a known beta-globin mutation
  • Prenatal diagnosis of potentially severe beta-thalassemia
  • Characterization of the sickle-cell mutation

Notes: To order testing for a relative of an individual with a known beta-globin mutation, see the Laboratory Medicine Online Test Guide for Beta Hemoglobin Sequencing, Relative [HBREL]

  • Origa R. Beta-Thalassemia. GeneReviews: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. 2000 Sep 28 [updated 2018 Jan 25]. 20301599
  • Old JM. Screening and genetic diagnosis of haemoglobin disorders. Blood Rev 2003, 17:43-53. 12490210
  • Globin Gene Server:
Globin, HBB, Hemoglobin C, Hemoglobin S, Hemoglobinopathy, Sickle Cell, Thalassemia intermedia, Thalassemia major



DNA sequencing of the coding regions, introns, and flanking sequences of the hemoglobin beta (HBB) gene in both directions to detect point mutations causing beta globin variants and beta thalassemia.

This test sequences bidirectionally a 2 kb contiguous region of the HBB (beta globin) gene from approximately bases 61941 to 63927 of Genbank U01317, corresponding to bases minus 195 to plus 1792 relative to the start of transcription. Patient sequences are compared against Genbank U01317 as genomic reference sequence to detect mutations. Mutations are reported at the genomic level, with base 1 corresponding to the start of transcription. Mutations that change an amino acid are reported at the protein level according to the sequence of the mature protein without its initiator methionine, and may also be described by the traditional name of the hemoglobin variant.

Correspondence between this mutation nomenclature system and the HGVS nomenclature system may be found at the web site

This test was developed and its performance characteristics determined by the Department of Laboratory Medicine at the University of Washington.

Reference Range
See individual components
Ref. Range Notes

No mutation detected.


Ordering & Collection

Specimen Type
Blood/Cultured amniocytes or chorionic villus cells/Extracted DNA from approved sample types (blood, chorionic villi, amniocyte). Direct chorionic villi, amniocyte, or amniotic fluid testing require Genetics Director approval. Please call the lab at 206-598-7021


  1. Whole blood:5 mL lavender top (EDTA) tube or yellow (ACD) top tube or 2 mL microtainer lavender top tube

  2. Extracted DNA from blood, chorionic villi, and amniocytes: 500 ng (concentration >10 ng/uL)

  3. Cultured amniocytes/chorionic villi: MCC is required for testing fetal samples. See MCC OLTG.

  4. Also acceptable, but requires the Genetics Director's approval and a backup culture. Direct chorionic villi and/or TISSUE: Send 20mg of tissue in a sterile tube or RPMI culture media

    *NOTE: If a fetal sample (cultured amniocytes or chorionic villi) was received, add MCC to the order. Prenatal testing requires concomitant testing for maternal cell contamination (see Online Test Guide, MCC for ordering and specimen requirements). See Special Instructions.

Unacceptable: Heparin green top tubes, buccal swab

Forms & Requisitions

Genetics Requisition

Handling Instructions

SPS specimen handling:

  1. Whole blood sample: store in the refrigerator

  2. Cultured amniocytes/chorionic villi: store at room temperature. Call the Genetics lab upon receipt (206)598-7021.

  3. Extracted DNA: store in the refrigerator
requested: Entire specimen
minimum: Blood: 1 mL. If volume is less than 1mL, do not cancel. Send to Genetics lab. Confluent cultured cells: One (1) T25 flask. Extracted DNA: 250 ng



If fetal tissue (cultured amniocytes or chorionic villi) was received for prenatal testing, consultation with the laboratory is required. Please notify the Genetics lab about prenatal studies via email at or call 206-598-7021.

For clients outside of UW, please include the most recent CBC and Hb electrophoresis result/s (if available), and/or any relevant clinical history.


LIS Dept Code
Genetics (GEN)
Performing Location(s)
UW-MT Genetics

Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195

Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-598–0304
Lab email:

Tel (EXOME only): 206-543-0459

Joe Bernal

Genetic Counselors
Angela Jacobson, MS, LGC
Sandra Coe, MS,LGC
Dru Leistritz, MS, LGC(EXOME testing only)

Variant Review Scientist
Ankita Jhuraney, PhD
Sarah Paolucci, MA, MS, LGC
Catherine A. Darcey, MSc
Daniel W. Serber, PhD, MS, LCGC

Jillian Buchan, PhD, FACMG
Runjun Kumar, MD, PhD
Christina Lockwood, PhD, DABCC, DABMGG
Brian Shirts, MD, PhD
Abbye McEwen, MD, PhD
Colin Pritchard, MD, PhD
Vera Paulson, MD, PhD
Eric Konnick, MD, MS
He Fang, PhD

Performed weekly. Results within 2-3 weeks.
Available STAT?

Billing & Coding

CPT codes
Billing Comments

For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.

Interfaced Order Code