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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

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

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 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

Report Available

2 to 25 days