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ATHENA #349 ATAXIA, FRIEDREICH(FXN) EVALUATION
MessageQUEST-> ATHENA LABS
Test Code
ATHENA #349
CPT Codes
81286,81284
Includes
Friedreich Ataxia (FXN) DNA Sequencing Test
Friedreich Ataxia (FXN) Repeat Expansion Test
Preferred Specimen
WHOLE BLOOD
Minimum Volume
8mLs
Instructions
DRAW 2 LAV TOP TUBES.*** PATHOLOGIST MUST APPROVE TEST PRIOR TO SENDING OUT.
Transport Container
ORIGINAL TUBES
Transport Temperature
REFRIGERATED
Specimen Stability
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Methodology
Next Generation Sequencing, Repeat Expansion Detection by PCR, Southern Blot
Report Available
21-28 DAYS
Reference Range
No sequence variants detected or expansions outside of the normal range
Clinical Significance
Detection of sequence variants and expansions of FXN
Typical Presentation: Children and Adults: Ataxia, dysarthria, muscle weakness, spasticity in the lower limbs, areflexia, cardiomyopathy, diabetes mellitus
Indications for testing: Clinical features consistent with those of Friedreich's Ataxia
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
Typical Presentation: Children and Adults: Ataxia, dysarthria, muscle weakness, spasticity in the lower limbs, areflexia, cardiomyopathy, diabetes mellitus
Indications for testing: Clinical features consistent with those of Friedreich's Ataxia
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
Performing Laboratory
ATHENA DIAGNOSTICS 200 Forest Street, 2nd Floor Marlborough, MA 01752 Phone (508) 756-2886
Additional Information
ATAXIA, FRIEDREICH(FXN) EVALUATION
