Test Menu
Condition
Test Name
Epileptic encephalopathy gene panel
Inclusive Genes
AARS, ABAT, ABCC8, ALDH7A1, ALG13, AMT, AP3B2, ARHGEF9, ARV1, ARX, ATP13A2, ATP7A, CACNA1A, CACNA1H, CACNB4, CAD, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLN3, CLN5, CLN6, CLN8, CLTC, CNPY3, CTSD, CTSF, D2HGDH, DENND5A, DHDDS, DNAJC5, DNM1, DOCK7, EEF1A2, FGF12, FOXG1, FRRS1L, GABBR2, GABRA1, GABRA2, GABRA3, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GLDC, GNAO1, GRIN2B, GRIN2D, GRN, GUF1, HCN1, HNRNPU, HSD17B4, IDH2, ITPA, KCNA2, KCNB1, KCNJ11, KCNQ2, KCNQ3, KCNT1, KCTD7, MBD5, MDH2, MECP2, MFSD8, MICAL1, NECAP1, NTRK2, NUS1, PC, PCDH19, PEX1, PEX10, PEX12, PEX26, PEX6, PIGA, PLCB1, PNKP, PNPO, PPT1, PTPN23, RHOBTB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22, SLC2A1, SLC35A2, SNAP25, SPTAN1, ST3GAL3, STXBP1, SUOX, SYNJ1, SZT2, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBA5, UBE3A, WDR45, WWOX, ZEB2
Specimen Type
Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid/ Dried Blood Spots (FTA Cards)/ Product of Conception (POC)