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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
RETT/ANGELMAN SYNDROME PANEL,GENEDX |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB4018 Geisinger Epic ID: 167524 | |
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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CPT code(s): |
81405, 81406x2, 81302, 81304, 81404 | |
| 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: |
ATRX, CDKL5, CNTNAP2, CTNNB1, DDX3X, DYRK1A, EHMT1, FOXG1, GABBR2, IQSEC2, KCNA2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, SATB2, SHANK3, SLC9A6, STXBP1, TBL1XR1, TCF4, UBE3A, WDR45, ZEB2 | |
Methodology: |
Deletion/Duplication Analysis Next Generation Sequencing |
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Synonyms: |
GeneDx code 729
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Clinical significance: |
Molecular confirmation of a clinical diagnosis To assist with decisions about treatment and management of individuals with epilepsy Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member Prenatal diagnosis for known familial variant(s) in at-risk pregnancies. | |