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HelpTest Code THEV0 Thalassemia Summary Interpretation, Blood
Secondary ID
608092Useful For
Incorporating and summarizing subsequent molecular results into an overall interpretation for the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
Testing Algorithm
When 1 or more molecular tests are added to the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum, then this test is also added as consultative interpretation that summarizes the testing performed as well as any pertinent clinical information. This summary is in addition to interpretations that may be provided for each component. This will be provided after additional testing is complete in order to incorporate subsequent results into an overall evaluation.
Method Name
Only orderable as a reflex. For more information see THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum.
Medical Interpretation
Reporting Name
Thalassemia Summary InterpretationSpecimen Type
Whole Blood EDTASpecimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Refrigerated | ||
Clinical Information
Some hemoglobin disorders can be very complex and involve abnormalities of the alpha, beta, delta, and gamma genes. These abnormalities can be due to, not only point variants, but also deletions within 1 or more globin genes.
Multiple genetic variants can be seen in the same patient, and molecular testing is necessary to fully evaluate such cases.
A summary interpretation that incorporates all the testing performed is beneficial to the ordering physician.
Reference Values
Only orderable as a reflex. For more information see THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum.
An interpretive report will be provided.
Interpretation
An interpretive report will be provided that summarizes all testing as well as any pertinent clinical information.
Cautions
No significant cautionary statements
Clinical Reference
1. OMIM. 141800 Hemoglobin-alpha locus 1; HBA1. Updated September 15, 2023. Accessed November 18, 2024. Available at www.omim.org/entry/141800?search=141800&highlight=141800
2. OMIM. 141900 Hemoglobin-beta locus; HBB. Updated September 15, 2023. Accessed November 18, 2024. Available at www.omim.org/entry/141900?search=141900&highlight=141900
3. Kipp BR, Roellinger SE, Lundquist PA, Highsmith WE, Dawson DB. Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human alpha-globin gene cluster. J Mol Diagn. 2011;13(5):549-557 doi:10.1016/j.jmoldx.2011.04.001
4. Thom CS, Dickson CF, Gell DA, Weiss MJ. Hemoglobin variants: biochemical properties and clinical correlates. Cold Spring Harb Perspect Med. 2013;3(3):a011858
5. Harteveld CL, Higgs DR. Alpha-thalassemia. Orphanet J Rare Dis. 2010;5:13
6. Thein SL. The molecular basis of beta-thalassemia. Cold Spring Harb Persepct Med. 2013;3(5):a011700
7. Hein MS, Oliveira JL, Swanson KC, et al. Large deletions involving the beta globin gene complex: genotype-phenotype correlation of 119 cases. Blood. 2015;126(23):3374
Method Description
A hematopathologist evaluates all results from the testing performed, and a summary interpretation is provided.
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
Not ApplicableLOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| THEV0 | Thalassemia Summary Interpretation | 14869-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 608092 | Thalassemia Summary Interpretation | 14869-2 |
| 608118 | Reviewed By | 18771-6 |
Day(s) Performed
Monday through Friday