TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: THEV0    
Thalassemia Summary Interpretation, Blood

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Only orderable as a reflex. For more information see THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood.

 

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided that summarizes all testing as well as any pertinent clinical information.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

No significant cautionary statements

Clinical Reference Recommendations for in-depth reading of a clinical nature

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