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HelpTest Code WBSEQ Beta Globin Gene Sequencing, Varies
Reporting Name
Beta Globin Gene Sequencing, BPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Diagnosis of beta thalassemia intermedia or major
Identification of a specific beta thalassemia sequence variant (ie, unusually severe beta thalassemia trait)
Evaluation of an abnormal hemoglobin electrophoresis identifying a rare beta-globin variant
Evaluation of chronic hemolytic anemia of unknown etiology
Evaluation of hereditary erythrocytosis with left-shifted p50 oxygen dissociation results
Preconception screening when there is a concern for a beta-hemoglobin disorder based on family history
Method Name
Polymerase Chain Reaction (PCR)/Sanger Sequencing
Ordering Guidance
For first-tier testing for beta thalassemia, order THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum.
For first-tier testing for beta-globin variant detection, order HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood.
Necessary Information
1. Patient's age is required.
2. Include recent transfusion information.
Specimen Required
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable:Â Yellow top (ACD), green top (sodium heparin)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in the original tube. Do not aliquot.
Specimen Stability Information: Refrigerate 30 days(preferred)/Ambient 14 days
Specimen Type: Extracted DNA from whole blood
Container/Tube: 1.5- to 2-mL tube
Specimen Volume: Entire specimen
Collection Instructions:
1. Label specimen as extracted DNA and source of specimen
2. Provide volume and concentration of the DNA
Specimen Stability Information:Â Frozen (preferred)/Refrigerate/Ambient
Specimen Type
VariesSpecimen Minimum Volume
Blood: 1 mL; Extracted DNA: 50 mcL at 50 ng/mcL concentration
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reject Due To
| Moderately to severely clotted | Reject |
Reference Values
An interpretive report will be provided.
Interpretation
The alteration will be provided with the classification, if known. Further interpretation requires correlation with protein studies and red blood cell indices.
Day(s) Performed
Monday through Friday
Report Available
10 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81364-HBB (hemoglobin, beta) full sequence
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| WBSEQ | Beta Globin Gene Sequencing, B | 79401-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 62128 | Beta Globin Gene Sequencing, B | 82939-0 |
| 43922 | Interpretation | 69047-9 |
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Metabolic Hematology Patient Information (T810)
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.
Testing Algorithm
A hemoglobin electrophoresis evaluation (HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood) is always indicated prior to beta-globin gene sequencing because these conditions can be complex and protein data allows accurate and rapid classification of the patient phenotype.