Specimen Collection Manual and Test Catalog
RETT/ANGELMAN SYNDROME PANEL,GENEDX
Geisinger Epic Procedure Code: LAB4018 Geisinger Epic ID: 167524Test Restriction: ORDER LIMITED TO GENETICS, PED NEURODEVELOPMENT, NEUROLOGY
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):
81404x2, 81405x3, 81406x4, 81479x3, 81302x1, 81304x1
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.
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
Next Generation Sequencing
Synonyms:
GeneDx code 729
Clinical significance:
Review Date:
12/16/2024 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