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SOD1 DNA Sequencing Test
Test Code121511
CPT Codes
81404
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in an EDTA (lavender-top) tube
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.
Please note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Please 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