Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Order Display Name: Geisinger Epic Procedure Code Or ID CPT Code:  

RETT/ANGELMAN SYNDROME PANEL,GENEDX

ORDERING INFORMATION:
Geisinger Epic Procedure Code: LAB4018         Geisinger Epic ID: 167524

SPECIMEN COLLECTION
Specimen type:
EDTA whole blood (preferred) OR 2 buccal swabs
Preferred collection container:
Alternate Collection Container:
3 mL lavender-top (K2 EDTA) tube
Specimen required:
2-5 mL EDTA whole blood OR 2 buccal swabs

SPECIMEN PROCESSING
Transport temperature:
Refrigerated.
Specimen stability:
Refrigerated; 7 days.

TEST DETAILS
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
Synonyms:
GeneDx code 729
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.

Performing Locations

GeneDx

Technical Lead: Michael Weaver    
Frequency: Report available: 4 weeks    
Performed STAT? No
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