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Optic Atrophy Evaluation (OPA1) - Athena #490
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
OPTIC ATROPHY(ATH#490
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
Sanger Sequencing
Report Available
28 - 42 days
Reference Range
Provided with the patient report in CPRS
Clinical Significance
Type of disorder: Neuromuscular Disorders
Typical presentation: Decreased visual acuity, color vision abnormalities, visual field defects, pallor of the optic nerve head
Disease(s) tested for: Autosomal Dominant Optic Atrophy, Optic Neuropathy
Utility: Identifies mutations in the OPA1 gene
Typical presentation: Decreased visual acuity, color vision abnormalities, visual field defects, pallor of the optic nerve head
Disease(s) tested for: Autosomal Dominant Optic Atrophy, Optic Neuropathy
Utility: Identifies mutations in the OPA1 gene
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
