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Geisinger Medical Laboratories Test Catalog
FRIEDREICH ATAXIA (FXN) REPEAT EXPANSION TEST
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Geisinger Epic Procedure Code: LAB2315
Geisinger Epic ID: 35485
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SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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Specimen required: |
8 mL EDTA whole blood; minimum 6 mL. Pediatric volume: 2 mL; minimum 1 mL. | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Room temperature. | |
Specimen stability: |
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable | |
TEST DETAILS |
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CPT code(s): |
81284 | |
| 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. | ||
Test includes: |
Complete ataxia evaluation. | |
Methodology: |
Repeat Expansion Detection by PCR Southern Blot |
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Synonyms: |
Quest test code 115281 Athena test code 119 FRATAX
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Clinical significance: |
Useful in the differential diagnosis for autosomal recessive cerebellar ataxia. | |