| EX1618 Nx GEN SEQUENCING: DRAVET’S SYNDROME & EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY |
| Specimen: |
Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
72 hrs |
NA |
|
| Method: |
NGS, Sanger sequencing |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
Dravet’s Syndrome is caused by a mutation in the SCN1A gene. It is an autosomal dominant inheritance presenting with febrile seizures at a 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 (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Whole Exome Sequencing Consent Form is mandatory. |
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