Incorporating and summarizing subsequent molecular results into an overall evaluation if 1 or more molecular tests are reflexed on the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood
This test is an additional consultative interpretation that summarizes all testing as well as any pertinent clinical information, and will be provided after test completion to incorporate subsequent molecular results into an overall evaluation if 1 or more of the following molecular tests are reflexed on the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood:
-ATHAL / Alpha-Globin Gene Analysis, Varies
-WASQR / Alpha-Globin Gene Sequencing, Blood
-WBSQR / Beta-Globin Gene Sequencing, Blood
-WBDDR / Beta-Globin Cluster Locus Deletion/Duplication, Blood
-WGSQR / Gamma-Globin Full Gene Sequencing, Varies
This summary is in addition to interpretation of individual components of the Thalassemia Evaluation, such as the hemoglobin electrophoresis and molecular tests.
Only orderable as a reflex. For more information see THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood.
Medical Interpretation
This test is an additional consultative interpretation that summarizes all testing as well as any pertinent clinical information, and will be provided after test completion to incorporate subsequent molecular results into an overall evaluation if 1 or more of the following molecular tests are reflexed on the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood:
-ATHAL / Alpha-Globin Gene Analysis, Varies
-WASQR / Alpha-Globin Gene Sequencing, Blood
-WBSQR / Beta-Globin Gene Sequencing, Blood
-WBDDR / Beta-Globin Cluster Locus Deletion/Duplication, Blood
-WGSQR / Gamma-Globin Full Gene Sequencing, Varies
This summary is in addition to interpretation of individual components of the Thalassemia Evaluation, such as the hemoglobin electrophoresis and molecular tests.
Whole Blood EDTA
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood EDTA | Refrigerated |
Incorporating and summarizing subsequent molecular results into an overall evaluation if 1 or more molecular tests are reflexed on the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood
This test is an additional consultative interpretation that summarizes all testing as well as any pertinent clinical information, and will be provided after test completion to incorporate subsequent molecular results into an overall evaluation if 1 or more of the following molecular tests are reflexed on the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood:
-ATHAL / Alpha-Globin Gene Analysis, Varies
-WASQR / Alpha-Globin Gene Sequencing, Blood
-WBSQR / Beta-Globin Gene Sequencing, Blood
-WBDDR / Beta-Globin Cluster Locus Deletion/Duplication, Blood
-WGSQR / Gamma-Globin Full Gene Sequencing, Varies
This summary is in addition to interpretation of individual components of the Thalassemia Evaluation, such as the hemoglobin electrophoresis and molecular tests.
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 to 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 of the testing performed is beneficial to the ordering physician.
Only orderable as a reflex. For more information see THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood.
An interpretive report will be provided.
An interpretive report will be provided that summarizes all testing as well as any pertinent clinical information.
No significant cautionary statements
1. OMIM: 141800 Hemoglobin-alpha locus 1; HBA1. Updated 11/01/2019. Accessed 10/19/2020. Available at www.omim.org/entry/141800?search=141800&highlight=141800
2. OMIM: 141900 Hemoglobin-beta locus; HBB. Updated 11/14/2019. Accessed 10/19/2020. Available at www.omim.org/entry/141900?search=141900&highlight=141900
3. Kipp BR, Roellinger SE, Lundquist PA, Highsmith WE, Dawson DBet al: 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 Sep;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;1;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;126:3374
A hematopathologist evaluates all of the testing performed and a summary interpretive report is added.
Monday through Friday
Not Applicable
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
THEV0 | Thalassemia Summary Interpretation | 14869-2 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
608092 | Thalassemia Summary Interpretation | 14869-2 |
608118 | Reviewed By | 18771-6 |