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Geisinger Medical Laboratories Test Catalog
XOMEDXPLUS-TRIO, GENEDX
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Geisinger Epic Procedure Code: LAB4033
Geisinger Epic ID: 167401
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SPECIMEN COLLECTION |
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Specimen type: |
EDTA whole blood (preferred) OR 2 buccal swabs | |
Preferred collection container: |
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Alternate Collection Container: |
3 mL lavender-top (K2 EDTA) tube
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Specimen required: |
2-5 mL EDTA whole blood OR 2 buccal swabs | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Refrigerated. | |
Specimen stability: |
Refrigerated: 7 days. | |
TEST DETAILS |
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Additional information: |
XomeDxPlus includes whole exome sequencing as well as mitochondrial genome sequencing and deletion testing. For more information on the mitochondrial genome sequencing and deletion component of the XomeDxPlus testing, please visit our neurology/mitochondrial genetics page on our website. XomeDxPlus is best suited for individuals with clinical features suggesting a mitochondrial disorder. Family member samples MUST BE RECEIVED WITHIN 3 WEEKS. Ordered test codes may require adjusting to appropriately correspond with relative samples received. A change in the ordered test will impact billing, including prior benefits investigations. To ensure that family members are linked properly and in a timely manner, be sure to include the following information for each relative sample: Relative name Relative DOB Proband's name Proband's DOB Relative's relationship to proband. | |
CPT code(s): |
81415,81416 x2,81460 | |
| 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. | ||
Methodology: |
Next Generation Sequencing |
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Synonyms: |
GENEDX CODE 690A, EXOME TRIO & MITO, WES TRIO & MITO
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Clinical significance: |
Determination of a clinical diagnosis. Identification of gene implicated in genetic disease. Recurrence risk assessment. | |