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Childhood-Onset Epilepsy Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
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
Disorders:
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

ORDERING

Test Code:
542
Turnaround Time:
8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81404x2, 81405x2, 81406x2, 81407x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Bennett S. Pharmacogenomics (2004) 5:433-8.
  2. Pal et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol (2010) 6:445-453
  3. Steinlein et al. Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci (2004) 5:401-408.
  4. Ramachandran et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes Epilepsia (2009) 50:29-36.
  5. Weber et al., Genetic mechanisms in idiopathic epilepsy Dev Med Child Neurol (2008) 50:648-654.
  6. 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
  7. Macdonald et al. Mutations in GABA receptor subunits associated with genetic epilepsies. J Physiol (2010) 588:1861-1869.
  8. Deprez et al. Genetics of epilepsy syndromes starting in the first year of life. Neurology (2009) 72:273-281.
  9. Ottman et al. Genetic testing in the epilepsies – Report of the ILAE Genetics Commission. Epilepsia (2010) 51:655-670.
  10. 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.
  11. 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.
  12. Pellock, JM. Understanding co-morbidities affecting children with epilepsy. Neurol (2004) 62:S17-S23.
  13. Pong et al. Developments in molecular genetic diagnostics: An update for the pediatric epilepsy specialist Pediatr Neurol (2011) 44:317-327

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