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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

-REVE1 / Erythrocytosis Evaluation, Whole Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum


Secondary ID

47959

Useful For

Evaluates for the following in an algorithmic process for the HAEV1 / Hemolytic Anemia Evaluation, Blood; HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood; MEV1 / Methemoglobinemia Evaluation, Blood; REVE1 / Erythrocytosis Evaluation, Whole Blood; THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum:

-Diagnosis of beta thalassemia intermedia or major

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

-Evaluation of an abnormal hemoglobin electrophoresis identifying a rare beta-globin variant

-Evaluation of chronic hemolytic anemia of unknown etiology

-Evaluation of 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

-REVE1 / 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

Reject Due To

Gross hemolysis OK
Moderately to severely clotted Reject

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

-REVE1 / Erythrocytosis Evaluation, Whole Blood

-THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

 

An interpretive report will be provided.

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. This test 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