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Test Catalog
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MPV17 DNA Sequencing Test (related to mtDNA depletion) |
#488 |
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| Type of Disorder: |
Mitochondrial Disease |
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| 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. Individuals with MPV17 mutations manifest with hepatoencephalopathic forms of mitochondrial disease. Clinical presentations include liver dysfunction including severe neonatal liver failure, hypotonia, and nystagmus. |
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| Indications for Testing: |
Symptomatic individuals consistent with hepatoencephalopathic forms of mitochondial disease. |
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| Disease(s) tested for: |
Hepatoencephalopathic Type of Mitochondrial Disease, Mitochondrial DNA Depletion Syndrome Type 6 |
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| Test Details |
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| Test Code: |
488 |
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| Profiles that contain this test: |
Mitochondrial Hepatoencephalopathic Evaluation
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| Informed Consent Required: |
No |
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| Technical Information |
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| Utility: |
Identifies mutations in the MPV17 gene related to mitochondrial DNA depletion |
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| Methodology: |
PCR and DNA Sequencing |
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| Reference Value: |
No mutations 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): |
Step 1: 83891(1), 83900(1), 83901(14), 83912(1), 83914(16); Steps 1 & 2: 83891(1), 83898(8), 83900(1), 83901(14), 83904(8), 83909(9), 83912(1), 83914(16) |
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| CPT 2013: |
81405(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) |
| Stability: |
Refrigerate; ship overnight |
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| Shipping Conditions: |
Ship room temperature, avoid freezing. |
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| Test Turnaround: |
21-28 days |
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