Friedreich's Ataxia (FXN) Repeat Expansion Analysis-Unknown Mutation


Sunquest Code:FRDARA  
Epic Code:LAB6814Epic Name:Friedrich Ataxia Rpt Expn
Methodology:Southern blot; Repeat expansion by PCR
CPT Code:81284
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 14-21 days.
Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Whole blood
Optimal Volume:5 mL
Minimum\Peds Volume:3 mL
Causes for Rejection:Frozen specimen


Processing and Shipping

Specimen Processing:Do not process. Store at room temperature.
Shipping Instructions:Ship at room temperature.
Test Performed at or Referral Lab Lab Sendouts  (Mayo)
Referral Lab number:FFRED


Interpretive

Reference Range:

By report.

 

Use:Detects GAA triplet repeat expansion in the Frataxin gene.


Click HERE to Report test errors or omissions.
*If no email program is associated with this computer, please contact:
systemlabguide@fairview.org for TestID: 2704"