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SOD1 DNA Sequencing Test
Test Code121511
CPT Codes
81404
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Minimum Volume
6 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
No mutation detected
Clinical Significance
Detects mutations in the superoxide dismutase (SOD1) gene. 20% of adult-onset familial ALS cases are associated with SOD1 mutations.
Disease tested for: Familial amyotrophic lateral Sclerosis (FALS)
Disease tested for: Familial amyotrophic lateral Sclerosis (FALS)
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
