| Laboratory | Exult Diagnostics, Dr. Lal PathLabs |
|---|
₹ 33000
| EX1615 Nx GEN SEQUENCING: COMPREHENSIVE EPILEPSY | |||||||
| Specimen: | Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. | ||||||
| Stability: |
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| Method: | NGS, Sanger sequencing | ||||||
| Comment: | |||||||
| Report: | Contact us to know the TAT. | ||||||
| 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. | ||||||
| Doctor Specialty: | Neurologist | ||||||
| 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 | ||||||
| Courier Charges: | |||||||
| Home Collection: | Available (*T&C Apply) | ||||||
| Department: | MOLECULAR DIAGNOSTICS | ||||||
| Pre Test Information: | A duly filled Whole Exome Sequencing Consent Form is mandatory. | ||||||
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