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Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

EPI NGS
Example Reports
Negative
Positive

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Epilepsy Patient History Form

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Additional Technical Information

Ordering Recommendation

Recommended test to establish a diagnosis or determine the genetic etiology of an epilepsy or seizure disorder.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 days

Reference Interval

By report

Interpretive Data

Refer to report.  

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes Tested: AARS; ABAT*; ADGRG1; ADSL*; ALDH5A1; ALDH7A1; ALG1*; ALG13*; ALG3; ALG6; ALG8; ALG9*; AMACR; AMT; ANKRD11*; AP3B2*; ARFGEF2; ARG1; ARHGEF9*; ARV1*; ARX*; ASAH1*; ASNS; ATN1; ATP1A1; ATP1A3; ATP6AP2; ATP7A; ATRX*; BCKDK; BRAT1*; BTD*; C12orf57; CACNA1A; CACNA1D; CACNA1E; CACNA2D2; CAD; CARS2*; CASK; CDKL5; CHD2; CHRNA4; CHRNB2; CLCN4; CLN3; CLN5*; CLN6*; CLN8; CLTC; CNKSR2*; CNTNAP2; COL4A1; CPT2; CSTB; CTSD; CTSF; CUL4B*; DCX; DDX3X*; DEAF1*; DEPDC5; DHDDS; DIAPH1; DMXL2*; DNAJC5; DNM1*; DNM1L; DOCK7; DPAGT1; DPM1; DPYD; DYNC1H1**; DYRK1A; EEF1A2; EHMT1*; EPM2A***; FARS2**; FGF12; FKTN*; FLNA; FOLR1; FOXG1*; FRRS1L; GABBR2*; GABRA1; GABRB2; GABRB3*; GABRD; GABRG2*; GALC; GAMT; GATM; GFAP; GNAO1; GNB1; GOSR2; GPHN*; GRIA3; GRIN1; GRIN2A; GRIN2B; HACE1; HCN1; HECW2; HNRNPU; HSD17B10; IQSEC2; ITPA; KANSL1*; KCNA1; KCNA2; KCNB1; KCNC1; KCNH1; KCNJ10; KCNJ11; KCNMA1; KCNQ2*; KCNQ3; KCNT1; KCTD7*; KDM5C*; KIF1A*; LGI1; MBD5*; MDH2; MECP2; MED17; MEF2C; MFSD8; MOCS2; MOGS; MPDU1; MTHFR; MTOR; NDE1; NECAP1; NEDD4L; NEU1; NEXMIF; NGLY1; NHLRC1; NPRL2; NPRL3; NR2F1*; NRXN1*; NSD1; NTRK2*; OPHN1; PACS1; PAFAH1B1*; PCDH19; PEX1; PEX12; PEX2; PEX3; PEX6; PHF6; PHGDH; PIGA; PIGG; PIGN; PIGO; PIGQ; PIGT; PIGV; PLCB1; PLPBP*; PMM2; PNKP; PNPO; POLG; PPT1; PRICKLE2; PRRT2; PSAP; PTPN23; PURA; QARS1; QDPR; RELN; RFT1; RNASEH2A; RNASEH2B; RNASEH2C; ROGDI; RORB*; SAMHD1*; SATB2; SCARB2; SCN1A*; SCN1B; SCN2A; SCN3A; SCN8A; SERPINI1; SETBP1; SLC12A5; SLC13A5; SLC19A3***; SLC1A2; SLC25A12*; SLC25A22; SLC2A1; SLC35A2; SLC6A1; SLC9A6*; SMARCA2*; SMC1A; SMS; SNAP25; SPATA5; SPTAN1*; ST3GAL3*; ST3GAL5; STRADA; STX1B; STXBP1*; SUOX; SYN1; SYNGAP1*; SYNJ1; SZT2*; TBC1D24; TBL1XR1; TCF4; TPK1*; TPP1; TREX1; TSC1; TSC2; TSEN54*; UBA5; UBE3A*; UNC80*; VPS13A; WDR45; WWOX**; ZEB2*
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see limitations section below.
**Deletion/duplication detection is not available for this gene.

***One or more exons are not covered by sequencing, and deletion/duplication detection is not available for this gene; see limitations section below.

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
09/05/2023
X
08/21/2023
X
N/A

CPT Codes

81419

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Components

Component Test Code* Component Chart Name LOINC
3016558 EPI Specimen 31208-2
3016559 EPI Interp 83006-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Aicardi-Goutieres syndrome
  • Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
  • Benign familial epilepsy
  • Developmental and epileptic encephalopathy
  • Dravet syndrome
  • Early infantile epileptic encephalopathy (EIEE)
  • Early myoclonic encephalopathy
  • Epilepsy of infancy with migrating focal seizures (EIMFS)
  • Familial temporal lobe epilepsy
  • Febrile seizures
  • Focal cortical dysplasia
  • Focal epilepsy
  • Generalized epilepsy
  • Genetic epilepsy with febrile seizures plus (GEFS+)
  • GLUT1 deficiency syndrome
  • Infantile spasm syndrome (ISS)
  • Landau-Kleffner syndrome
  • Lennox-Gastaut syndrome
  • Mowat-Wilson syndrome
  • Neuronal ceroid lipofuscinosis
  • Nocturnal frontal lobe epilepsy
  • Ohtahara syndrome
  • Progressive myoclonic epilepsy
  • Pyridoxine-dependent epilepsy (EPD)
  • Rett syndrome
  • Smith-Kingsmore syndrome
  • West syndrome
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication