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Progressive External Opthalmoplegia Evaluation - Athena #576
MessageTest cost $5025.
This 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.
This 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
POE EVAL(ATH#576)
Includes
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, Restriction Fragment Length Polymorphism (RFLP)
Report Available
28 - 42 days
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Type of disorder: Mitochondrial Disorders
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. PEO is associated with a clinical presentation that includes ptosis and/or ophthalmoplegia in patients with onset in adolescence or adulthood. Additional symptoms may include exercise intolerance, proximal muscle weakness and wasting, cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, or hypogonadism.
Indications for testing: Symptomatic individuals consistent with a clinical presentation of Progressive External Ophthalmoplegia (PEO) phenotype.
Disease(s) tested for: Progressive External Ophthalmoplegia
Utility: Detects mutations in nuclear genes and mitochondrial DNA associated with the PEO Phenotype
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. PEO is associated with a clinical presentation that includes ptosis and/or ophthalmoplegia in patients with onset in adolescence or adulthood. Additional symptoms may include exercise intolerance, proximal muscle weakness and wasting, cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, or hypogonadism.
Indications for testing: Symptomatic individuals consistent with a clinical presentation of Progressive External Ophthalmoplegia (PEO) phenotype.
Disease(s) tested for: Progressive External Ophthalmoplegia
Utility: Detects mutations in nuclear genes and mitochondrial DNA associated with the PEO Phenotype
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
