Background:
Neurological disorders include a large group of conditions with genetic and phenotypic heterogeneity and often have overlapping clinical features, such as intellectual disability, seizures, microcephaly, motor disability, brain malformations (lissencephaly, molar tooth sign), vision loss, speech difficulties, and respiratory failure. Epilepsy is a common neurological disorder characterized by recurrent, unprovoked seizures. Childhood Epilepsy, also called Juvenile myoclonic epilepsy, is age specific type of epilepsy characterized by absence seizures, myoclonic seizures, and tonic-clonic seizures beginning between 5-16 years of age. This next-generation sequencing test is designed to detect mutations in the coding region of 48 genes associated with Childhood Epilepsy.
Reasons for Referral:
- Electroencephalogram results suspicious for epilepsy.
- Occurrence of seizures.
- Positive family history for epilepsy (targeted testing is available if familial mutation is known).
- Carrier testing.
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.
The 48 Childhood Epilepsy associated genes are listed below:
ADSL, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, SYN1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2
Methodology:
Specimen Requirements:
Test Performed (Days):
Turn Around Time:
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References:
- Epilepsy Foundation
Additional Info: