Test Code THEV1 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.
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 |
Specimen 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.
Specimen Retention Time
7 days; abnormal samples: 14 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT 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