In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015. We will resume our normal schedule on Tuesday, September 8, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
Childhood-Onset Epilepsy Panel
FORMS AND DOCUMENTS
- ADSL, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GOSR2, GRIN2A, KANSL1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC9A6, SYN1, TBC1D24, TCF4, TPP1 (CLN2), UBE3A, ZEB2
- Adenylosuccinate Lyase Deficiency
- Alpers syndrome (Alpers-Huttenlocher syndrome)
- Angelman syndrome (AS)
- Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
- Atypical Rett Syndrome
- Creatine Deficiency Syndromes
- Epilepsy and Mental Retardation Limited to Females
- Epilepsy with Variable Learning and Behavioral Disorders
- Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
- Glucose Transporter Type I Deficiency Syndrome
- Juvenile Myoclonic Epilepsy
- Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
- Mowat-Wilson Syndrome
- Neuronal Ceroid Lipofuscinoses (NCL)
- Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
- Partial Epilepsy with Auditory Features, Autosomal Dominant
- Progressive Myoclonic Epilepsy
- Rett syndrome
- Clinical Utility:
- Molecular confirmation of a clinical diagnosis
- To assist with decisions about treatment and management of individuals with epilepsy
- Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
- Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
- Lab Method:
- Exon Array CGH|Next-gen Sequencing
- Test Code:
- Turnaround Time:
- 4 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 81404x2, 81405x2, 81406x2, 81407x1
- New York Approved:
- ABN Required:
- Billing Information:
- View Neurology Billing Policy
- Bennett S. Pharmacogenomics (2004) 5:433-8.
- Pal et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol (2010) 6:445-453
- Steinlein et al. Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci (2004) 5:401-408.
- Ramachandran et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes Epilepsia (2009) 50:29-36.
- Weber et al., Genetic mechanisms in idiopathic epilepsy Dev Med Child Neurol (2008) 50:648-654.
- Nicita et al., The genetics of monogenic idiopathic epilepsies and epileptic encephalopathy Seizure: Eur J Epilepsy (2011) doi:10.1016/j.seizure.2011.08.007
- Macdonald et al. Mutations in GABA receptor subunits associated with genetic epilepsies. J Physiol (2010) 588:1861-1869.
- Deprez et al. Genetics of epilepsy syndromes starting in the first year of life. Neurology (2009) 72:273-281.
- Ottman et al. Genetic testing in the epilepsies – Report of the ILAE Genetics Commission. Epilepsia (2010) 51:655-670.
- Andrade DM. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brains. Hum Genet (2009) 126:173-193.
- Berg et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commision on Classification and Terminology, 2005- 2009. Epilepsia (2010) 51: 676-685.
- Pellock, JM. Understanding co-morbidities affecting children with epilepsy. Neurol (2004) 62:S17-S23.
- Pong et al. Developments in molecular genetic diagnostics: An update for the pediatric epilepsy specialist Pediatr Neurol (2011) 44:317-327