Infantile Epilepsy Panel InfantEpi

Synonyms

Allscripts (AEHR) Order Name

Not Orderable

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

Clinical Info

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 mutation(s) in at-risk pregnancies

Specimen Type

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender Top Tube
Specimen: 2-5 mL Blood
Transport Temperature: Room Temperature
 

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Exon Array CGH|Next-gen Sequencing
 
Genes:ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DNM1, DYRK1A, EEF1A2, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRRT2, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2

Days Performed

Performing Laboratory

GeneDx

CPT

81404x
81405
81406x3
81407

PDM

1659919

Result Interpretation

See Report
 

Forms