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Test Code LAB8892 Beta-Globin Gene Sequencing, Blood

Additional Codes

WBSQR 


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


Secondary ID

47959

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

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

-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.

Method Description

Genomic DNA is extracted from whole blood. The HBB gene is amplified by polymerase chain reaction (PCR). The PCR product is then purified and sequenced in both directions using fluorescent dye-terminator chemistry. Sequencing products are separated on an automated sequencer and trace files analyzed for variations in all exons, introns with the exception of IVS-II-82 through IVS-II-650, the 5'UTR, the 3'UTR, and the promoter region. Results are correlated with routine studies to identify unusual beta globin variants.(Reddy PL, Bowie LJ: Sequence-based diagnosis of hemoglobinopathies in the clinical laboratory. Clin Lab Med. 1997;17[1]:85-96; Traeger-Synodinos J, Harteveld CL: Advances in technologies for screening and diagnosis of hemoglobinopathies. Biomarkers Med. 2014;8[1]:115-127)

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