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HelpTest ID BLOD1722 Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
Necessary Information
Include the following information with the specimen:
Recent transfusion information
-Most recent complete blood cell count results
-If not sending serum, include ferritin results.
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
Patient Preparation: For 12 hours before specimen collection do not take multivitamins or dietary supplements containing biotin (vitamin B7), which is commonly found in hair, skin, and nail supplements and multivitamins.
Collection Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
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:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Metabolic Hematology Patient Information (T810)
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen
Secondary ID
608085Useful 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 |
| FERR1 | 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. 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/duplication), 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.
For more information see Benign Hematology Evaluation Comparison
Special Instructions
Method Name
THEVI, THEV0: Medical Interpretation
HGBCE: Capillary Electrophoresis
HPLC: Cation Exchange/High-Performance Liquid Chromatography (HPLC)
FERR1: Electrochemiluminescence Immunoassay
IEF: Isoelectric Focusing
MASS: Mass Spectrometry (MS)
HPFH: Flow Cytometry
UNHB: Isopropanol and Heat Stability
Reporting Name
Thalassemia and Hemoglobinopathy EvSpecimen Type
SerumWhole 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 |
Reject Due To
| Gross hemolysis | Reject |
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. It 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
82728
82664 (if appropriate)
83068 (if appropriate)
83789 (if appropriate)
88184 (if appropriate)
Day(s) Performed
Monday through Thursday