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Test ID THEV1 Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum


Necessary Information


Include recent transfusion information.

 

Include most recent complete blood cell count results.

 

Include ferritin results if not sending serum

 

Metabolic Hematology Patient Information (T810) is strongly recommended. Testing may proceed without this information, however if the information requested is received, any pertinent reported clinical features and data will drive the focus of the evaluation and be considered in the interpretation.

 

The laboratory has extensive experience in hemoglobin variant identification and many cases can be confidently classified without molecular testing. However, molecular confirmation is always available, subject to sufficient sample quantity (eg, MLPA testing requires at least 2 mL of sample in addition to protein testing requirements). If no molecular testing or specific molecular tests are desired, utilize the appropriate check boxes on the form. If the form or other communication is not received, the reviewing hematopathologist will select appropriate tests to sufficiently explain the protein findings which may or may not include molecular testing.



Specimen Required


Blood and serum are required.

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 15 mL

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

 

Specimen Type: Serum

Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Specimen Volume: 0.6 mL

Collection Instructions:

1. Serum gel tubes should be centrifuged within 2 hours of collection.

2. Red-top tubes should be centrifuged and the serum aliquoted into a plastic vial within 2 hours of collection.

3. Label specimen as serum.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Metabolic Hematology Patient Information (T810) in Special Instructions

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

Useful For

Evaluation of microcytosis

 

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

 

Diagnosis of hereditary persistence of hemoglobin

Profile Information

Test ID Reporting Name Available Separately Always Performed
THEVI Hemoglobinopathy Interpretation No Yes
HGBCE Hb Variant, A2 and F Quantitation,B Yes Yes
HPLC HPLC Hb Variant, B No Yes
FERR Ferritin, S Yes Yes

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
HPFH Hb F Distribution, B No No
SDEX Sickle Solubility, B Yes No
IEF Isoelectric Focusing, B No No
UNHB Hb Stability, B No No
MASS Hb Variant by Mass Spec, B No No
ATHAL Alpha-Globin Gene Analysis Yes No
WASQR Alpha Globin Gene Sequencing, B Yes, (Order WASEQ) No
WBSQR Beta Globin Gene Sequencing, B Yes, (Order WBSEQ) No
WBDDR Beta Globin Cluster Locus Del/Dup,B Yes, (Order WBDD) No
WGSQR Gamma Globin Full Gene Sequencing Yes, (Order WGSEQ) No
THEV0 Thalassemia Summary Interpretation No No

Testing Algorithm

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

 

This evaluation will always include hemoglobins A2 and F and hemoglobin electrophoresis utilizing cation exchange high-performance liquid chromatography (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 needed, do not send a serum sample, and the ferritin test will not be performed or charged. Note: If a ferritin is not performed or provided, and if microcytosis is present and no other abnormalities are found (beta thalassemia, a hemoglobin variant that is associated with microcytosis), the case will be reflexed to alpha-globin gene analysis unless otherwise requested not to be performed.

 

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, isoelectric focusing, HbF distribution by flow cytometry, cation exchange HPLC, DNA (Sanger) testing for beta-chain variants and the most common beta thalassemias (beta-globin gene sequencing), multiplex ligation-dependent probe amplification testing for beta-cluster locus large deletions and duplications, including large deletional hereditary persistence of fetal hemoglobin (HPFH), delta-beta, delta thalassemias, gamma-delta-beta, and epsilon-gamma-delta-beta thalassemias (beta-globin cluster locus deletion/duplicatoin), large deletional alpha thalassemias and alpha-gene duplications (alpha-globin gene analysis), alpha-chain variants and nondeletional alpha thalassemias (alpha-globin gene sequencing), and gamma-chain variants and nondeletional HPFH (gamma-globin full gene sequencing).

 

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 this test.

-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

The results of the individual protein and molecular tests will be released as they are completed; with a final summary interpretation report correlating all performed testing with any clinical information or complete blood cell count results received.

 

See Benign Hematology Evaluation Comparison in Special Instructions.

Method Name

THEVI, THEV0: Medical Interpretation

HGBCE: Capillary Electrophoresis

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

FERR: Immunoenzymatic Assay

IEF: Isoelectric Focusing

MASS: Mass Spectrometry (MS)

HPFH: Flow Cytometry

UNHB: Isopropanol and Heat Stability

Reporting Name

Thalassemia and Hemoglobinopathy Ev

Specimen Type

Serum
Whole Blood EDTA

Specimen Minimum Volume

Blood: 2.5 mL
Serum: 0.5 mL

Specimen Stability Information

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

Reference Values

Definitive results and an interpretive report will be provided.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

83020-26-Hemoglobinopathy Interpretation

83020-Hb Variant, A2 and F Quantitation

83021-HPLC Hb Variant

82728-Ferritin

82664 (if appropriate)

83068 (if appropriate)

83789 (if appropriate)

88184 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
THEV1 Thalassemia and Hemoglobinopathy Ev In Process

 

Result ID Test Result Name Result LOINC Value
FERR Ferritin, S 20567-4
41927 Hb A 20572-4
65615 HPLC Hb Variant, B No LOINC Needed
608425 Hemoglobinopathy Interpretation 14869-2
608868 Reviewed By 18771-6
41928 Hb F 4576-5
41929 Hb A2 4551-8
41930 Variant 1 24469-9
41931 Variant 2 24469-9
41932 Variant 3 24469-9
41933 HGBCE Interpretation 78748-1

NY State Approved

Yes

Day(s) Performed

Monday through Saturday

Report Available

2 to 25 days