Specimen: Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Stability (Room): 6 hrs
Stability (Refrigerated): 72 hrs
Stability (Frozen): N/A
Method: NGS, Sanger sequencing
Price: Contact Medilab
Turnaround time (TAT): 45 working days
Usage: Epilepsy is a neurological disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations and sometimes loss of awareness. It refers to a clinical phenomenon rather than a single disease entity and can run in families. Some people with epilepsy simply stare blankly for a few seconds during a seizure, while others repeatedly twitch their arms or legs. At least two unprovoked seizures are generally required for a diagnosis of epilepsy. Mutations in certain genes have been identified as a cause of brain malformations which can lead to epilepsy. Many inherited epilepsies are due to mutations affecting the ion channel function. Early childhood epilepsy is due to De novo mutations.
Disease: Genetic Disorders-Epilepsy
Components: ACY1, ADRA2B, ADSL, ALDH7A1, AMT, ARHGEF15, ARHGEF9, ARX, ASAH1, CACNA1H, CACNB4, CDKL5, CERS1, CHRNA2, CHRNA4, CHRNB2, CLCN2, CNTNAP2, CPA6, CPT2, CSTB, DEPDC5, DRD2, EFHC1, EPM2A, FOLR1, FOXG1, GAB- RA1, GABRB3, GABRD, GABRG2, GAMT, GCSH, GLDC, GOSR2, GRIN2A, GRIN2B, JRK, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAPK10, MBD5, MECP2, MEF2C, MFSD8, MTHFR, MTOR, NEDD4L, NEU1, NHLRC1, NOL3, NRXN1, PCDH19, PIGA, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, QARS, RBFOX1, RBFOX3, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SGCE, SLC13A5, SLC19A3, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBCE, TCF4, TPP1, TREX1, TSC1, TSC2, UBE3A, WWOX, ZEB2
Home Collection: Available
Department: MOLECULAR DIAGNOSTICS
Pre-test Information: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.