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HelpTest Code LAB2842 Beta Hemoglobin Sequencing
Clinical System Name
Beta Hemoglobin Sequencing
Synonyms
Beta Hb
Beta Globin
Globin
Hb Beta
HBB
HBSEQ
Hemoglobin C
Hemoglobin S
Hemoglobinopathy
Sickle Cell
Thalassemia intermedia
Thalassemia major
Sample Requirements
Whole blood is the preferred specimen type for this test.
Specimen: Whole Blood
Container(s): Lavender/EDTA or Yellow/ACD
Preferred Vol: 5.0 mL
Minimum Vol: 2.0 mL
Specimen: Extracted DNA
Container(s): Sterile Plastic Tube
Preferred Vol: 30 ul at a concentration of 100ng/ul concentration
Minimum Vol: 20 ul at a concentration of 100ng/ul
Alternative Specimen (e.g. saliva or buccal): not accepted at this time.
Processing Instructions
Reject due to: Dark Green/Sodium Heparin or Formalin-fixed paraffin-embedded tissues
Spin: N
Aliquot: N
Temp: 2 - 4 C
Storage Location: Do not spin or separate specimen. Store whole blood affixed with a large label in the CPA 1 refrigerator, Send Outs rack.
Off-site Collection: Do not spin or separate specimen. Transport refrigerated.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole B lood | Room temp | 3 d |
| Refrigerated | 7 d | |
| Frozen | N | |
| Extracted DNA | Room temp | 3 - 4 d |
| Refrigerated | 1 y | |
| Frozen | Indefinitely |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | Weekly | 3 w |
Performing Laboratory
University of Washington Medical Center
Department of Laboratory Medicine
Genetics Lab
1959 NE Pacific St, NW220
Seattle, WA 98195
Phone Number: (206) 520-4600
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Methodology
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.
Reference Range
Interpretive report provided.
Send Out Instructions
| Reference Test Name: | Beta Hemoglobin DNA Sequencing |
| Reference Test Number: | HBSEQ |
| Instructions: | Send out Monday through Friday with the UW courier. |