POLG1-related disorders
Lab
studies request form |
CPT Codes/Price
List (PDF)
POLG1 mutations are responsible for multiple clinical diagnoses with overlapping phenotypes. Aside from Autosomal Dominant Progressive External Ophthalmoplegia, all of the other conditions are inherited in an autosomal recessive manner.
- Alpers-Huttenlocher syndrome (AHS) includes a progressive and severe encephalopathy with epilepsy, neuropathy and liver failure.
- Childhood Myocerebrohepatopathy Spectrum (MCHS) presents before age three with developmental delay, lactic acidosis, failure to thrive and myopathy. Hearing loss, cyclic vomiting, renal and hepatic problems are also often present.
- Myoclonic Epilepsy Myopathy Sensory Ataxia (MEMSA) includes myopathy, epilepsy and ataxia without ophthalmoplegia and generally presents in young adulthood.
- Ataxia Neuropathy Spectrum (ANS) includes mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). Features include ataxia, neuropathy and often encephalopathy with seizures.
- Autosomal Recessive Progressive External Ophthalmoplegia (arPEO) involves progressive PEO without systemic involvement.
- Autosomal Dominant Progressive External Ophthalmoplegia (adPEO) involves progressive weakness of the extraocular eye muscles which causes strabismus and ptosis.
The Greenwood Genetic Center Molecular Laboratory offers sequencing for the POLG1 gene.
Specimen requirements: 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow top) may be submitted. If sending cultured cells for testing, please include a control flask. Please contact the laboratory for more information.
Transport: Please contact the Molecular Diagnostic Lab Coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Analysis standards: Analysis will be complete within 6 weeks of sample receipt. The laboratory director and technical staff members independently assess the quality and interpretation of the test. The Greenwood Genetic Center Molecular Diagnostic Laboratory is CLIA certified and actively participates in CAP proficiency surveys.
Reporting of Test Results: Test results with interpretation will be mailed and/or faxed following completion of the test. Verbal reports will be telephoned to the person(s) requesting the test when an abnormal test result occurs. Consultation with the laboratory director and explanations of testing protocols are available upon request.
Unknown mutation:
- CPT Codes: 83890, 83898 (x9), 83904 (x10), 83909 (x10), 83912
Known mutation:
- CPT Codes: 83890, 83898, 83904 (x2), 83909, 83912
|
|
