| Test code: | 486 |
| Type of disorder: | Mitochondrial Disorders |
| Disease(s) tested for: | Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) |
| Genes Included: | RRM2B, |
| Profiles that contain this test: | Mitochondrial Encephalomyopathic Evaluation Mitochondrial Neurogastrointestinal Encephalopathy Evaluation (MNGIE) |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Identifies mutations in the RRM2B gene related to mitochondrial DNA depletion 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. RRM2B is associated with phenotypes consistent with Mitochondrial neurogastrointestinal encephalopathy (MNGIE) including GI dysmotility, ophthalmoplegia, ptosis, cachexia, peripheral neuropathy and leukoencephalopathy. RRM2B is also associated with the Mitochondrial encephalomyopathy phenotype as well as symptoms such as hypotonia, tubulopathy, seizures, respiratory distress and lactic acidosis. Indications for testing: Symptomatic individuals consistent with a clinical presentation of mitochondrial neurogastrointestinal encephalopathy (MNGIE) and mitochondrial encephalomyopathy. |
| Methodology: | Sanger Sequencing |
| Reference Range: | No mutations detected |
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.
| CPT: | 81405(1) |
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: | Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: | 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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