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Test Catalog
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MELAS mtDNA Evaluation |
#517 |
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
Features may include lactic acidosis, ophthalmoplegia, seizures, stroke-like episodes and ragged red fibers |
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| Disease(s) tested for: |
MELAS |
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| Test Details |
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| Test Code: |
517 |
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| Profiles that contain this test: |
Common Mitochondrial Disorders Evaluation, Mitochondrial Neurogastrointestinal Encephalopathy Evaluation (MNGIE), Progressive External Ophthalmoplegia Evaluation
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| Informed Consent Required: |
No |
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| Medicare ABN Required: |
No |
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| Special Notes: |
This test includes MELAS 3243, MELAS 3271, MELAS 3252, MELAS 3256, MELAS 3291, and MELAS 13513. |
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| Technical Information |
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| Utility: |
Detects six mtDNA point mutations linked to MELAS syndrome |
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| Methodology: |
Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) |
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| Reference Value: |
No mutation 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), 83892(5), 83898(6), 83904(1), 83909(1), 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: |
20ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Alternate
Specimen Requirements |
| Type: |
Muscle tissue |
| Minimum Volume: |
100mg |
| Collection Tube: |
Cryovial |
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| Storage Conditions: |
Do not freeze blood, refrigerate. Muscle must be frozen immediately and stored at -70? celsius or lower. |
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| Shipping Conditions: |
Ship blood at room temperature, avoid freezing and ship blood within 24 hours of drawing. Ship muscle frozen on 10 lbs. of dry ice, use a Muscle Biopsy Collection Container, provided by Athena. |
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| Test Turnaround: |
14-21 days |
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