• Test Code:
    1291
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Infantile EpilepsyChildhood EpilepsyABATADSLALDH5A1ALDH7A1AMTARHGEF9ARXASPMATP1A2BTDCACNA1ACACNB4CASKCASRCDKL5CHRNA2CHRNA4CHRNB2CLN3CLN5CLN6CLN8CNTNAP2CPA6CSTBCTSDDCXDNAJC5EFHC1EPM2A FLNAFOLR1FOXG1GABRA1GABRG2GAMTGATMGCH1GLDCGOSR2GPR56GPR98GRIN2AKCNJ10KCNMA1KCNQ2KCNQ3KCTD7LGI1LIASMAGI2MBD5MCPH1MECP2MEF2CMFSD8MMACHCMTHFRNHLRC1NRXN1OPHN1PAFAH1B1PCBD1PHGDHPLCB1PNKP PNPOPOLGPPT1PRICKLE1PRICKLE2PRRT2PSPHPTSQDPRSCARB2SCN1ASCN1BSCN2ASCN8ASCN9ASLC19A3SLC25A22SLC2A1SLC6A8SLC9A6SPTAN1STXBP1SYN1TBC1D24TCF4TPP1TSC1TSC2TSEN54UBE3AWDR45WDR62ZEB2
  • CPT Code(s):
    8130281404x881405x881406x1081407x58140881479x66***************************New Codes as of 01/01/2019**************************81185811898130281404x781405x881406x1081407x48140881479x66
Background:

Neurological disorders include a large group of conditions with genetic and phenotypic heterogeneity and often have overlapping clinical features, such as intellectual disability, seizures, microcephaly, motor disability, brain malformations (lissencephaly, molar tooth sign), vision loss, speech difficulties, and respiratory failure. Epilepsy is a common neurological disorder characterized by recurrent, unprovoked seizures. There are many different types of epilepsy and seizures including infantile epilepsy and childhood epilepsy. This next-generation sequencing test is designed to detect mutations in the coding region of 99 genes associated with Epilepsy.

Reasons for Referral:

  • Electroencephalogram results suspicious for epilepsy.
  • Occurrence of seizures.
  • Positive family history for epilepsy (targeted testing is available if familial mutation is known).
  • Carrier testing.

Methodology:

Next generation sequencing using Illumina NextSeq 500 technology of the 99 Epilepsy/Seizure-associated genes listed below:

Epilepsy/Seizure panel (99 genes): ABAT, ADSL, ALDH5A1, ALDH7A1, AMT, ARHGEF9, ARX, ASPM, ATP1A2, BTD, CACNA1A, CACNB4, CASK, CASR, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CPA6, CSTB, CTSD, DCX, DNAJC5, EFHC1, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GATM, GCH1, GLDC, GOSR2, GPR56, GPR98, GRIN2A, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCTD7, LGI1, LIAS, MAGI2, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MMACHC, MTHFR, NHLRC1, NRXN1, OPHN1, PAFAH1B1, PCBD1, PHGDH, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, PSPH, PTS, QDPR, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, SYN1, TBC1D24, TCF4, TPP1, TSC1, TSC2, TSEN54, UBE3A, WDR45, WDR62, ZEB2

Specimen Requirements:

  • Blood:  EDTA or ACD (Solution A or B):
  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL
  • Saliva: 2 ORAgene Saliva Kits (OGR-500)
  • Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks
  • DNA: 3-4µg at a minimum of 50-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided.
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. http://www.epilepsy.com/

Additional Info: