Epilepsy metabolic, NGS

Epilepsy Panel

21 days

Next Generation Sequencing

Genelist (116): ACO2, ALDH4A1, ALDH5A1, ALDH7A1, AP4M1, APTX, ARG1, ARSA, ASAH1, ASL, ASNS, ATAD1, ASPA, ASS1, ATP6AP1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, C19orf12, CA5A, CAD, CASR, CBS, CLN6, CLPB, CNNM2, COASY, COQ4, COQ8A, COQ9, D2HGDH, DCAF17, DPYD, FA2H, FAM111A, FXYD2, GTPBP2, IDS, IDUA, IVD, KCNA1, KCNJ10, KIF1A, L2HGDH, LIPA, MAN2B1, MCCC1, MCCC2, MOCS1, MOCS2, MPV17, MTHFR, MTR, MTRR, NAGLU, NGLY1, NPC1, OAT, OTC, PAH, PANK2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHYH, PLA2G6, PNPO, POLG, PPT1, PRPS1, PSPH, PTS, QDPR, SCP2, SGSH, SLC12A1, SLC12A3, SLC19A3, SLC22A5, SLC1A3, SLC25A1, SLC25A12, SLC25A19, SLC2A1, SLC33A1, SLC39A8, SLC46A1, SLC6A19, SLC6A5, SLC6A8, SLC6A9, SPR, SUCLA2, SUCLG1, SUOX, TH, TWNK

Accredited NRL Laboratory

Once a week

Detect genetic mutations causing metabolic epilepsy; targeted therapeutic strategies.

Peripheral Blood

5-7 mL whole blood OR DNA ≥ 100 µL

Lavender-top (EDTA) tube

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.