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MIRAS-Specific POLG1 DNA Test
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
POLG1 DNA(ATH)
Preferred Specimen
Whole blood lavender EDTA
Minimum Volume
10 mL
Instructions
Avoid freezing. Ship within 24 hours, Mon-Thu only.
Transport Temperature
Room temperature
Methodology
PCR and DNA Sequencing
Report Available
28-42 days
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Disease(s) tested for: Mitocondrial recessive ataxia syndrome (MIRAS)
Utility: Detects sequence variations in three exons in the POLG1 gene known to cause the MIRAS syndrome
Indications for Testing: Patients previously tested and found to be negative for all other ataxia genes
Utility: Detects sequence variations in three exons in the POLG1 gene known to cause the MIRAS syndrome
Indications for Testing: Patients previously tested and found to be negative for all other ataxia genes
Performing Laboratory
Test performed at Athena Diagnostics.
Additional Information
Link to test information on Athena Diagnostics website
Last Updated: October 28, 2015