Infantile Epilepsy Panel

New York
Approved


Genes

ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A3, ATP6AP2, ATRX, BRAT1, C12orf57, CACNA1A, CACNA1E, CACNA1G, CASK, CDKL5, CHD2, CHRNA7, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, CUL4B, DCX, DDX3X, DEPDC5, DNM1, DOCK7, DYRK1A, EEF1A2, EHMT1, FGF12, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KIAA2022 (NEXMIF), MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NPRL3, NR2F1, NRXN1, PACS1, PAFAH1B1, PCDH19, PIGA, PIGG, PIGN, PIGO, PIGT, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRRT2, PURA, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SHANK3, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SNAP25, SPATA5, SPTAN1, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, TUBB2A, UBE3A, WDR45, WWOX

Conditions

  • Creatine Deficiency Syndromes
  • Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
  • Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
  • Adenylosuccinate Lyase Deficiency
  • Glucose Transporter Type I Deficiency Syndrome
  • Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
  • Angelman syndrome (AS)
  • Mowat-Wilson Syndrome
  • Neuronal Ceroid Lipofuscinoses (NCL)
  • Ohtahara Syndrome
  • Pyridoxine Dependent Seizures
  • Rett syndrome
  • Atypical Rett Syndrome
  • West Syndrome
  • Benign Familial Infantile Seizures (BFIS)
  • Benign Familial Neonatal-Infantile Seizures (BFNIS)
  • Benign Familial Neonatal Seizures (BFNS)

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

The American Epilepsy Society has endorsed an evidence-based practice guideline supporting exome or genome sequencing as a first-tier test for patients with unexplained epilepsy.

References:

  1. Smith, L., Malinowski, J., Ceulemans, S., Peck, K., Walton, N., Sheidley, B. R., & Lippa, N. (2023). Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. Journal of Genetic Counseling, 32, 266– 280. https://doi.org/10.1002/jgc4.1646

Test Code

541

CPT Codes*

81403x1, 81404x2, 81405x3, 81406x4, 81407x1, 81479x1, 81185x1, 81302x1, 81304x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.