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Specimen Collection Manual and Test Catalog

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FRIEDREICH ATAXIA (FXN) REPEAT EXPANSION TEST

Geisinger Epic Procedure Code:  LAB2315    Geisinger Epic ID:  35485
Test Restriction:  ORDER LIMITED TO GENETICS AND NEUROLOGY

SPECIMEN COLLECTION
Specimen type: 

Whole blood


Preferred collection container: 
Specimen required: 

8 mL EDTA whole blood; minimum 6 mL. Pediatric volume: 2 mL; minimum 1 mL.



SPECIMEN PROCESSING
Transport temperature: 

Room temperature.


Specimen stability: 

Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable



TEST DETAILS
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
Synonyms: 

Quest test code 115281, Athena test code 119, FRATAX


Clinical significance: 

Useful in the differential diagnosis for autosomal recessive cerebellar ataxia.


Review Date:  11/14/2024

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