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Test Code MISCLM Thalassemia and Hemoglobinopathy Evaluation

Additional Codes







Reporting Name

Thalassemia and Hemoglobinopathy Ev

Useful For

Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia including complex disorders


Evaluation of microcytosis


Diagnosis of hereditary persistence of hemoglobin (HPFH)

Profile Information

Test ID Reporting Name Available Separately Always Performed
THEV Hemoglobinopathy Interpretation No Yes
A2F Hemoglobin A2 and F No Yes
HBEL Hemoglobin Electrophoresis, B No Yes
FERR Ferritin, S Yes Yes

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
SDEX Hemoglobin S, Scrn, B Yes No
IEF IEF Confirms No No
MASS Hb Variant by Mass Spec, B No No
UNHB Unstable Hemoglobin, B No No
HPFH Hemoglobin F, Red Cell Distrib, B No No
ATHAL Alpha-Globin Gene Analysis Yes No
WASQR Alpha Globin Gene Sequencing, B Yes, (WASEQ) No
WBSQR Beta Globin Gene Sequencing, B Yes, (WBSEQ) No
WBDDR Beta Globin Cluster Locus Del/Dup,B Yes, (WBDD) No
WGSQR Gamma Globin Full Gene Sequencing Yes, (WGSEQ) No
THEVA Thalassemia Summary Interpretation No No

Testing Algorithm

This is a consultative evaluation in which the case will be evaluated at Mayo Medical Laboratories, the appropriate tests performed at an additional charge, and the results interpreted.


This evaluation will always include hemoglobin A(2) and F and hemoglobin electrophoresis utilizing cation exchange HPLC and capillary electrophoresis methods.


If a serum sample is received, a serum ferritin will always be performed to allow incorporation of possible iron deficiency into profile interpretation and economical test utilization. If the ferritin component is not desired, do not send a serum sample and none will be performed or charged. Fill out the Thalassemia/Hemoglobinopathy Patient Information sheet (T358) and indicate the CBC values and ferritin levels for a more complete evaluation.

Note: If a ferritin is not done or provided, and if microcytosis is present and no other abnormalities are found, the case will be reflexed to alpha-globin gene analysis.


Hemoglobin electrophoresis reflex testing, performed at additional charge, may include any or all of the following as indicated to identify rare hemoglobin variants present: sickle solubility (hemoglobin S screen), hemoglobin heat and isopropanol stability studies (unstable hemoglobin), isoelectric focusing, intact globin chain mass spectrometry (hemoglobin variant by mass spectrometry), Hb F distribution by flow cytometry (hemoglobin F red cell distribution), DNA (Sanger) testing for beta chain variants and the most common beta thalassemias (beta-globin gene sequencing), multiplex ligation-dependent probe amplification (MLPA) testing for beta cluster locus large deletions and duplications, including large deletional hereditary persistence of fetal hemoglobin (HPFH), delta-beta (DBT), delta thalassemias, gamma-delta-beta (GDBT), and epsilon-gamma-delta-beta (EGDBT) thalassemias (beta globin cluster locus del/dup), large deletional alpha thalassemias and alpha gene duplications (alpha-globin gene analysis), alpha chain variants and non-deletional alpha thalassemias (alpha-globin gene sequencing), and gamma chain variants and non-deletional HPFH (gamma-globin full gene sequencing).


If a Thalassemia/Hemoglobinopathy Patient Information sheet (T358) is received with the sample, the reported clinical features or clinical impression will be considered in the interpretation and focus of the evaluation. Our laboratory has extensive experience in hemoglobin variant identification and many cases can be confidently classified without molecular testing. However, molecular confirmation is always available. If no molecular testing or, conversely, specific molecular tests are desired, please utilize the appropriate check boxes in the information sheet. If the information sheet or other communication is not received, the reviewing hematopathologist will select appropriate tests to sufficiently explain the clinical impression or reported CBC results, which may or may not include molecular testing.


Thalassemia Summary Interpretation, an additional consultative interpretation that summarizes all testing, will be provided after test completion to incorporate subsequent results into overall evaluation if any of the following molecular tests are reflexed on the Thalassemia and Hemoglobinopathy Evaluation:

-ATHAL / Alpha-Globin Gene Analysis

-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

Method Name

THEV: Consultative Interpretation

A2F: Cation Exchange/High-Performance Liquid Chromatography (HPLC)

HBEL: Capillary Electrophoresis

FERR: Immunoenzymatic Assay

IEF: Electrophoresis

MASS: Mass Spectrometry (MS)

HPFH: Flow Cytometry

UNHB: Isopropanol and Heat Stability

THEVA: Consultative Interpretation

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole Blood EDTA

Necessary Information

1. Include recent transfusion information.

2. Include most recent CBC results.

Specimen Required

Both blood and serum are required.


Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 15 mL

Collection Instructions: Send specimen in original tube. Do not aliquot.


Specimen Type: Serum

Container/Tube: Red top or serum gel

Specimen Volume: 0.6 mL

Collection Instructions: Label specimen as serum.

Specimen Minimum Volume

Blood: 2.5 mL; Serum: 0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Serum Refrigerated 7 days
Whole Blood EDTA Refrigerated 7 days

Reject Due To


Mild OK; Gross reject







Reference Values

Definitive results and an interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Saturday

CPT Code Information

Thalassemia and Hemoglobinopathy Evaluation


83020-Hemoglobin electrophoresis

83021-Hemoglobin A2 and F


IEF Confirms

82664 (if appropriate)


Hemoglobin, Unstable, Blood

83068 (if appropriate)


Hemoglobin Variant by Mass Spectrometry

83789 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
THEVP Thalassemia and Hemoglobinopathy Ev 14869-2


Result ID Test Result Name Result LOINC Value
2380 Hemoglobin A 20572-4
FERR Ferritin, S 20567-4
2381 Hemoglobin A2 4551-8
583 Hemoglobinopathy Interpretation 14869-2
2382 Hemoglobin F 4576-5
2383 Variant 32017-6
29224 Variant 2 32017-6
29225 Variant 3 32017-6
2101 Interpretation 49316-3

Test Classification

See Individual Test IDs

Analytic Time

2 to 25 days if structural and/or molecular studies are required


1. Thalassemia/Hemoglobinopathy Patient Information (T358) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen (