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SOD1 DNA Sequencing Test - Athena #620
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
FALS SOD1(ATH#620)
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
Report Available
28 - 42 days
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Type of disorder: Motor Neuron Disorders
Typical presentation: Lower and upper motor neuron disease
Disease(s) tested for: Familial amyotrophic lateral Sclerosis (FALS)
Utility: Detects mutations in the superoxide dismutase (SOD1) gene. 20% of adult-onset familial ALS cases are associated with SOD1 mutations.
Typical presentation: Lower and upper motor neuron disease
Disease(s) tested for: Familial amyotrophic lateral Sclerosis (FALS)
Utility: Detects mutations in the superoxide dismutase (SOD1) gene. 20% of adult-onset familial ALS cases are associated with SOD1 mutations.
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Additional Information
Link to Athena Diagnostics test catalog
Last Updated: December 18, 2015
