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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

Reporting Name

Beta 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

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

-REVE2 / Erythrocytosis Evaluation, 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

Specimen Retention Time

Blood: 2 weeks; DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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