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Test Catalog
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MIRAS-Specific POLG1 DNA Test |
#383 |
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| Type of Disorder: |
Movement Disorders |
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| Typical Presentation: |
Patients with a recessive ataxia syndrome. Age of onset ranges from 5 - 41 years, the most common initial symptom is gait disturbance. May also help patients previously tested and found to be negative for all other ataxia genes. |
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| Indications for Testing: |
Patients previously tested and found to be negative for all other ataxia genes. |
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| Disease(s) tested for: |
Mitochondrial recessive ataxia syndrome (MIRAS)
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| Test Details |
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| Test Code: |
383 |
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| Profiles that contain this test: |
Autosomal Recessive Ataxia Evaluation, Complete Ataxia Evaluation
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| Informed Consent Required: |
No |
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| Medicare ABN Required: |
No |
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| Special Notes: |
Only select exons are tested in POLG1 to minimize the cost of testing.
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| Technical Information |
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| Utility: |
Detects sequence variations in three exons in the POLG1 gene known to cause the MIRAS syndrome |
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| Methodology: |
PCR and DNA Sequencing |
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| Reference Value: |
No sequence variations detected |
| CPT Coding |
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The CPT codes provided are based on AMA guidelines
and are for informational purposes only. CPT coding
is the sole responsibility of the billing party.
Please direct any questions regarding coding to
the payer being billed.
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| Stacked CPT Code(s): |
83891(1), 83898(3), 83904(3), 83909(3), 83912(1) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate; avoid freezing |
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| Shipping Conditions: |
Room temperature. Ship within 24 hours, Monday-Thursday only. |
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| Test Turnaround: |
3-4 weeks |
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