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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
MELAS MTDNA EVALUATION |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB2659 Geisinger Epic ID: 35488 | |
SPECIMEN COLLECTION |
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Specimen type: |
Whole blood (preferred) or muscle tissue. | |
Preferred collection container: |
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Specimen required: |
8 mL whole blood, min. 6 mL; pediatric 2 mL, min. 1 mL OR 100 mg muscle tissue in Cryovial. | |
Special notes: |
Must be shipped within 24 hours of collection. Avoid freezing. | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Do not freeze blood or refrigerate. Ship blood at room temperature. Avoid freezing. Ship blood within 24 hours of collection. Muscle tissue must be stored at -70° C or lower. Ship muscle tissue frozen on 10 lbs of dry ice. Use a muscle biopsy collection container provided by Athena. | |
Specimen stability: |
Room temperature: 4 days. Refrigerated: 10 days. Frozen: Unacceptable. | |
Rejection criteria: |
Frozen whole blood specimen unacceptable. | |
TEST DETAILS |
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Additional information: |
Turnaround time 23 days. | |
CPT code(s): |
81401 | |
| Note: The billing party has sole responsibility for CPT coding. Any questions regarding coding should be directed to the payer being billed. The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only. | ||
Test includes: |
Detection of six mtDNA point mutations linked to MELAS syndrome | |
Methodology: |
Polymerase Chain Reaction (PCR) |
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Synonyms: |
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke syndrome mtDNA mutation Quest test code 11838 MELDNA
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Clinical significance: |
Clinical use is for individuals presenting with any combination of stroke-like episodes, vomiting, seizures, headache, weakness, lactic acidosis, and possible presence of ragged red fibers | |