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OPA1 DNA Seq (related to mtDNA depletion)
Test Code38382
CPT Codes
81407<br /> Limited Access Code
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 two EDTA (lavender-top) tubes, or
Pediatric 0-3 years: 2 mL whole blood
Pediatric 0-3 years: 2 mL whole blood
Minimum Volume
6 mL • 1 mL pediatric
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Specimen Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Specimen Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: As needed; Report available: 14-28 days
Report Available
28 Days
Reference Range
No mutation detected
Clinical Significance
Identifies mutations in the OPA1 gene related to mitochondrial disease.
Typical Presentation: Mitochondrial disease is a clinically heterogeneous group of multisystem disorders characterized by muscle weakness and wasting caused by mutations of nuclear or mitochondrial DNA. Individuals with OPA1 mutations may present with ophthalmoplegia, optic atrophy and hearing loss. OPA1 has also been associated with visual loss, mild myopathy and ataxia.
Indications for testing: Symptomatic individuals consistent with mitochondrial disease.
Typical Presentation: Mitochondrial disease is a clinically heterogeneous group of multisystem disorders characterized by muscle weakness and wasting caused by mutations of nuclear or mitochondrial DNA. Individuals with OPA1 mutations may present with ophthalmoplegia, optic atrophy and hearing loss. OPA1 has also been associated with visual loss, mild myopathy and ataxia.
Indications for testing: Symptomatic individuals consistent with mitochondrial disease.
