In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and will resume our normal work schedule on Saturday, November 29, 2014. If you have any questions or inquiries, please call us at 301-519-2100 or email us at email@example.com.
Infantile Epilepsy Panel
FORMS AND DOCUMENTS
- ADSL, ALDH7A1, ARX, ATP6AP2, CDKL5, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, FOLR1, FOXG1, GABRG2, GAMT, GRIN2A, KANSL1, KCNJ10, KCNQ2, KCNQ3, KCTD7, LIAS, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NRXN1, PCDH19, PNKP, PNPO, POLG, PPT1, SCN1A, SCN1B, SCN2A, SCN8A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, ZEB2
- Adenylosuccinate Lyase Deficiency
- Angelman syndrome (AS)
- Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
- Atypical Rett Syndrome
- Benign Familial Neonatal Seizures (BFNS)
- Benign Familial Neonatal-Infantile Seizures (BFNIS)
- Creatine Deficiency Syndromes
- Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
- Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
- Glucose Transporter Type I Deficiency Syndrome
- Infantile Spasm Syndrome-2, X-linked
- Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
- Mowat-Wilson Syndrome
- Neuronal Ceroid Lipofuscinoses (NCL)
- Ohtahara Syndrome
- Pyridoxine Dependent Seizures
- Rett syndrome
- West 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:
- 8 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 81404x2, 81405x1, 81406x3, 81407x1
- New York Approved:
- ABN Required:
- Billing Information:
- View Neurology Billing Policy
- Bennett S. Pharmacogenomics (2004) 5:433-8.
- Pellock, JM. Understanding co-morbidities affecting children with epilepsy. Neurol (2004) 62:S17-S23.
- Pal et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol (2010) 6:445-453
- 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.
- 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.
- Ramachandran et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes Epilepsia (2009) 50:29-36.
- Steinlein et al. Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci (2004) 5:401-408.
- Pong et al. Developments in molecular genetic diagnostics: An update for the pediatric epilepsy specialist Pediatr Neurol (2011) 44:317-327
- 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
- Ottman et al. Genetic testing in the epilepsies – Report of the ILAE Genetics Commission. Epilepsia (2010) 51:655-670.
- Deprez et al. Genetics of epilepsy syndromes starting in the first year of life. Neurology (2009) 72:273-281.
- Macdonald et al. Mutations in GABA receptor subunits associated with genetic epilepsies. J Physiol (2010) 588:1861-1869.