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FIG4 DNA Sequencing Test #225
Type of Disorder: Peripheral Neuropathy
Typical Presentation: Early onset, coordination disorder, severe disability. MNCV 2?7 m/s, CMAPs reduced.
Disease(s) tested for: Charcot-Marie-Tooth Disease Type 4J
Test Details
Test Code: 225
Profiles that contain this test: Complete CMT Evaluation, Partial CMT Evaluation - Recessive Only
Informed Consent Required: Yes
Medicare ABN Required: No
Technical Information
Utility: Detects mutations in the FIG4 gene
Methodology: DNA Sequencing, Polymerase Chain Reaction (PCR)
Reference Value: No sequence variation detected
CPT Code(s): 83891(1), 83898(23), 83904(23), 83909(1), 83912(1)
Shipping Considerations
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 20 mL
Collection Tube: Lavender top (EDTA)
Storage Conditions: Refrigerate
Shipping Conditions: Ship same day. Must arrive at Athena on a weekday.
Test Turnaround: 2-3 weeks
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