Infantile Epilepsy Panel, Sequence Analysis and Exon-Level Deletion/Duplication, 51 Genes
2007535
Ordering Recommendation
Refer to Additional Technical Information document.
Mnemonic
INFAN 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, ALDH7A1, ARX, ATP6AP2, CDKL5, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, FOLR1, FOXG1, GABRG2, GAMT, GRIN2A, KANSL1, KCNJ10, KCNQ2, KCNQ3, KCTD7, LIAS, MAG12, MBD5, MECP2, MEF2C, MFSD8, NRXN1, PCDH19, PNKP, PNPO, POLG, PPT1, SCN1A, SCN1B, SCN2A, SCN8A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, ZEB2
CPT Code(s)
81302; 81304; 81403 (ARX); 81404 x4 (ARX, KCNJ10, SCN1B, ZEB2); 81405 x6 (CDKL5, GABRG2, PCDH19, SLC2A1, TCF4, TSC1); 81406 x11 (ALDH7A1, CDKL5, CNTNAP2, KCNQ2, POLG, SLC9A6, STXBP1, TCF4, TSC1, TSC2, UBE3A); 81407 x2 (SCN1A, TSC2); 81479 x2
Components
Component Test Code*Component Chart NameLOINC
2007536Infantile Epilepsy Panel, 51 Genes35474-6
2010873Ordering Physician Name67102-4
2010874Ordering Physician Phone Number67714-6
2010887EER Infantile Epilepsy Panel, 51 Genes11526-1
* 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