Description
| Specimen: | Whole blood |
| Stability: | |
| Method: | NGS, Sanger sequencing |
| Comment: | Samples received on holidays will be reported in next schedule / next working day. |
| Price: | 20000.00 |
| Report: | Sample Daily by 9 am; Report 40 Working days |
| Usage: | Dravet’s Syndrome is caused by mutation in SCN1A gene. It is an autosomal dominant inheritance presenting with febrile seizures at median 1 year of age which may persist >6 years after which the seizures become variable and are not associated with fever. Early infantile epileptic encephalopathy (EIEE) is a severe form of early onset epilepsy characterized by severe EEG abnormalities and resistance to standard anti-epileptic treatment. It leads to developmental delay & intellectual disability. |
| Doctor Specialty: | Neurologist |
| Disease: | Genetic Disorders-Encephalopathy |
| Components: | ARHGEF9, ARX, CDKL5, GABRG2, KCNQ2, KCNT1, PCDH19, PNKP, PLCB1, SCN1A, SCN2A, SCN8A, SCN9A, SLC25A22, SPTAN1, STXBP1 |
| Courier Charges: | |
| Home Collection: | Available |
| Department: | MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
