Comprehensive Epilepsy Panel

Concurrent analysis of multiple genes associated with seizures. 

NY Approved

Test Overview

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

Test Details

Genes

ADSL, ALDH5A1, ALDH7A1, ALG13, ANKRD11, ARG1, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, C12orf57, CACNA1A, CACNA1E, CACNA1G, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, CTSF, CUL4B, DCX, DDX3X, DEPDC5, DNAJC5, DNM1, DOCK7, DYRK1A, EEF1A2, EHMT1, EPM2A, FGF12, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KIAA2022 (NEXMIF), LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NHLRC1, NPRL3, NR2F1, NRXN1, PACS1, PAFAH1B1, PCDH19, PHGDH, PIGA, PIGG, PIGN, PIGO, PIGT, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRRT2, PURA, QARS, SATB2, SCARB2, 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

  • Adenylosuccinate Lyase Deficiency
  • Alpers syndrome (Alpers-Huttenlocher syndrome)
  • Angelman syndrome (AS)
  • Arginase Deficiency
  • Atypical Rett Syndrome
  • Benign Familial Neonatal-Infantile Seizures (BFNIS)
  • Benign Familial Neonatal Seizures (BFNS)
  • Cabezas syndrome
  • Creatine Deficiency Syndromes
  • Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
  • 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
  • KBG Syndrome
  • Lafora Disease
  • Lissencephaly
  • Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
  • Neuronal Ceroid Lipofuscinoses (NCL)
  • Ohtahara Syndrome
  • Progressive Myoclonic Epilepsy
  • Pyridoxine Dependent Seizures
  • Rett syndrome
  • Unverricht-Lundborg Disease (Baltic Myoclonus)
  • West Syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: 523
CPT Codes*: 81403x2, 81404x5, 81405x2, 81406x2, 81407x1, 81479x3, 81185x1, 81189x1, 81302x1
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.

Resources

Test Documents

Billing

For Providers

Targeted Variant Testing

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