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Friedreich's Ataxia Profile
Test Code901331
CPT Codes
81284, 81286<br>Restricted Client Code
Includes
Friedreich Ataxia DNA Test, Friedreich's Ataxia DNA Sequencing Analysis
Preferred Specimen
8 mL whole blood collected in an EDTA (lavender-top) tube
Pediatric volume: 2 mL whole blood collected in an EDTA (lavender-top) tube
Pediatric volume: 2 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Informed consent required.
Instructions: Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Avoid freezing.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Instructions: Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Avoid freezing.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing • Repeat Expansion Detection by Polymerase Chain Reaction • Southern Blot
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
No sequence variants detected or expansions outside of the normal range
Clinical Significance
Use: Detection of sequence variants and expansions of FXN
