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Test Code WASQR Alpha-Globin Gene Sequencing, Blood


Specimen Required


Only orderable as a reflex. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood

-MEV1 / Methemoglobinemia Evaluation, Blood

-REVE2 / Erythrocytosis Evaluation, Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable:  Yellow top (ACD)

Specimen Volume: 4 mL


Useful For

Testing for nondeletional alpha thalassemia in a symptomatic individual

 

Follow-up testing to an abnormal hemoglobin electrophoresis that identified an alpha-globin chain variant

 

Evaluating for nondeletional alpha thalassemias in an algorithmic process for:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood

-MEV1 / Methemoglobinemia Evaluation, Blood

-REVE2 / Erythrocytosis Evaluation, Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

Method Name

Only orderable as a reflex. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood

-MEV1 / Methemoglobinemia Evaluation, Blood

-REVE2 / Erythrocytosis Evaluation, Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

 

Polymerase Chain Reaction (PCR)/Sanger Sequencing

Reporting Name

Alpha Globin Gene Sequencing, B

Specimen Type

Whole Blood EDTA

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Refrigerated 14 days

Reference Values

Only orderable as a reflex. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood

-MEV1 / Methemoglobinemia Evaluation, Blood

-REVE2 / Erythrocytosis Evaluation, Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

 

An interpretive report will be provided.

Interpretation

A summary interpretation will be provided as a part of the HAEV1 / Hemolytic Anemia Evaluation, Blood; HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood; MEV1 / Methemoglobinemia Evaluation, Blood; REVE2 / Erythrocytosis Evaluation, Blood; THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum.

Clinical Reference

1. Harteveld CL, Higgs DR: Alpha-thalassemia. Orphanet J Rare Dis. 2010 May 28;5:13

2. Hoyer JD, Hoffman DR: The Thalassemia and hemoglobinopathy syndromes. In: McClatchey KD, ed. Clinical Laboratory Medicine. 2nd ed. Lippincott Williams and Wilkins; 2002:866-895

3. Farashi S, Harteveld CL: Molecular basis of a-thalassemia. Blood Cells Mol Dis. 2018 May;70:43-53. doi: 10.1016/j.bcmd.2017.09.004

4. Henderson SJ, Timbs AT, McCarthy J, ed al: Ten years of routine a- and B-globin gene sequencing in UK hemoglobinopathy referrals reveals 60 novel mutations. Hemoglobin. 2016;40(2):75-84. doi: 10.3109/03630269.2015.1113990

Day(s) Performed

Monday through Friday

Report Available

10 days

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

81259-HBA1/HBA2; full sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
WASQR Alpha Globin Gene Sequencing, B 87730-8

 

Result ID Test Result Name Result LOINC Value
47952 Alpha Globin Gene Sequencing Result 50397-9
47953 Interpretation 59466-3