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

Abbrev Code:MMMISC   
Order Code:LAB4909Order Name:Friedrich Ataxia Rpt Expn
Methodology:Southern blot; Repeat expansion by PCR
CPT Codes: 81284 x1
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
Container:Purple (EDTA)
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


Reference Range:

By report.


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

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