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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
ALPHA-GLOBIN GENE DELETION OR DUPLICATION |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB1714 Geisinger Epic ID: 39170 | |
SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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Alternate Collection Container: |
4 mL green/green-top (sodium heparin) tube
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Specimen required: |
5 mL whole blood; minimum 3 mL | |
| SPECIMEN PROCESSING |
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Specimen processing instructions: |
Specimen stability is crucial. Store and ship at room temperature immediately. | |
Transport temperature: |
Room temperature. | |
Specimen stability: |
Room temperature, refrigerated, frozen: 8 days. | |
TEST DETAILS |
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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) |
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Synonyms: |
Alpha globin gene analysis panel Quest test code 16124 AGGD
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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. | |