Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication, 50 Genes
2007545
Ordering Recommendation
Refer to Additional Technical Information document.
Mnemonic
CHILD EPIL
Methodology
Massive Parallel Sequencing/Exonic Oligonucleotide-based CGH Array
Performed
Varies
Reported
10-12 weeks  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA). Also acceptable: Pink (K2EDTA).  
Specimen Preparation
Transport 5 mL whole blood. (Min: 2 mL)  
Storage/Transport Temperature
Room temperature. Also acceptable: Refrigerated. Protect from extreme temperatures.  
Unacceptable Conditions
  
Remarks
Clinical indication or reason for testing is required.  
Stability
Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
 
Note
Test includes: ADSL, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A, KANSL1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, SYN1, TBC1D24, TCF4, TPP1 (CLN2), UBE3A, ZEB2
CPT Code(s)
81302; 81304; 81403(NHLRC1); 81404 x 4 (CSTB, EPM2A, SCN1B, ZEB2); 81405 x6 (CDKL5, CHRNA4, CHRNB2, GABRG2, PCDH19, SLC2A1); 81406 x7 (CDKL5, CNTNAP2, EFHC1, POLG, SLC9A6, TCF4, UBE3A); 81407 (SCN1A); 81479 x 2
Components
Component Test Code*Component Chart Name
2007546Childhood-Onset Epilepsy Panel,50 Genes
2010873Ordering Physician Name
2010874Ordering Physician Phone Number
2010888EER Childhood-Onset Epilepsy Panel
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
 

Performed at GeneDx