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Test Code WASEQ Alpha Globin Gene Sequencing, Blood

Useful For

Diagnosing nondeletional alpha thalassemia

 

Testing for nondeletional alpha thalassemia in a symptomatic individual

 

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

Testing Algorithm

This test is a second-tier test in the evaluation of alpha thalassemia carrier determination, hemoglobin H disease confirmation, and alpha globin variant identification.   First-tier testing for alpha thalassemia detection is THEVP / Thalassemia and Hemoglobinopathy Evaluation. If only genetic testing is desired, the first-tier genetic test is for large deletional alpha thalassemia mutations (ATHAL / Alpha-Globin Gene Analysis). First-tier testing for an alpha globin variant is HBELC / Hemoglobin Electrophoresis Cascade, Blood.

Method Name

Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

Reporting Name

Alpha Globin Gene Sequencing, B

Specimen Type

Whole Blood EDTA


Advisory Information


For information on thalassemias and appropriate test ordering, see Thalassemia Tests in Special Instructions.

Necessary Information


1. Patient's age is required.

2. Include recent transfusion information.



Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: ACD, sodium heparin

Specimen Volume: 4 mL

Collection Instructions: Do not transfer blood to other containers


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
Other Moderately to severely clotted

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday, Wednesday, Friday

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 U.S. Food and Drug Administration.

CPT Code Information

81259-HBA1/HBA2; full sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
WASEQ Alpha Globin Gene Sequencing, B 88730-8

 

Result ID Test Result Name Result LOINC Value
61362 Alpha Globin Gene Sequencing, B 87730-8
43921 Interpretation 69047-9

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Thalassemia/Hemoglobinopathy Patient Information (T358) in Special Instructions.