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.

Method Name
A short description of the method used to perform the test

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

 

Medical Interpretation

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Thalassemia Summary Interpretation

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.

Specimen Type
Describes the specimen type validated for testing

Whole Blood EDTA

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Whole Blood EDTA Refrigerated (preferred)

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

Method Description
Describes how the test is performed and provides a method-specific reference

A hematopathologist evaluates all of the testing performed and a summary interpretive report is added.

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 25 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

14 days

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

Not Applicable

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

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

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports