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Specimen Collection Manual and Test Catalog

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ALPHA-GLOBIN GENE DELETION OR DUPLICATION

Geisinger Epic Procedure Code:  LAB1714    Geisinger Epic ID:  39170

SPECIMEN COLLECTION
Specimen type: 

Whole blood


Preferred collection container: 
Alternate collection container: 
4 mL green/green-top (sodium heparin) tube
Specimen required: 

5 mL whole blood; minimum 3 mL



SPECIMEN PROCESSING
Processing instructions: 

Specimen stability is crucial. Store and ship at room temperature immediately.


Transport temperature: 

Room temperature.


Specimen stability: 

?Whole blood - Room temperature: 30 days. Refrigerated: 30 days. Frozen: Do not freeze.



TEST DETAILS
CPT code(s):  81269
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Methodology: 
Capillary Electrophoresis
Multiplex polymerase chain reaction (PCR)
Synonyms: 

Alpha globin gene analysis panel, Quest test code 16124, AGGD


Clinical significance: 

This test can be used to detect the presence or absence of large deletions in the HBA1 or HBA2 gene in patients or their family members suspected of having alpha-Thalassemia or who are carriers of alpha globin deletions. The assay can also be used in the prenatal diagnosis of alpha-Thalassemia. The assay does not determine the type or breakpoint of the rearrangement. This assay can be used instead of Southern Blot analysis to determine the total number of intact alpha globin genes.


Review Date:  12/19/2024

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