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Test Code WBSQR Beta-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

Evaluating for the following in an algorithmic process for 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:

-Diagnosing of beta thalassemia intermedia or major

-Identifying a specific beta thalassemia sequence variant (ie, unusually severe beta thalassemia trait)

-Evaluating an abnormal hemoglobin electrophoresis identifying a rare beta-globin variant

-Evaluating chronic hemolytic anemia of unknown etiology

-Evaluating hereditary erythrocytosis with left-shifted p50 oxygen dissociation results

-Preconception screening when there is a concern for a beta-hemoglobin disorder based on family history

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

Beta Globin Gene Sequencing, B

Specimen Type

Whole Blood EDTA

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
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

The alteration will be provided with the classification, if known. Further interpretation requires correlation with protein studies and red blood cell indices.

Clinical Reference

1. 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

2. Thein SL: The molecular basis of beta-thalassemia. Cold Spring Harb Perspect Med. 2013 May 1;1;3(5):a011700

3. Hoyer JD, Kroft, SH: Color Atlas of Hemoglobin Disorders: A Compendium Based on Proficiency Testing. CAP; 2003

4. Merchant S, Oliveira JL, Hoyer JD, Viswanatha DS: Molecular diagnosis in hematopathology. In: Goldblum J, His E, eds. Hematopathology: A Volume in Foundations in Diagnostic Pathology Series. 2nd ed. Churchill Livingstone; 2012

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

81364-HBB (hemoglobin, beta) full sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
WBSQR Beta Globin Gene Sequencing, B 50996-8

 

Result ID Test Result Name Result LOINC Value
47954 Beta Globin Gene Sequencing Result 50397-9
47955 Interpretation 59466-3