Test Directory

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.

**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.

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

Specimen Type: Whole Blood

Collection Container: Pale Yellow Top ACD (Solution A or B)

Alternate Collection Container: Lavender Top (EDTA) or Pink Top (EDTA)

Desired Specimen Volume: 3 mL

1. Collect a pale-yellow top (ACD solution A or B) tube via venipuncture.

Sample must be accompanied by a completed EPILEPSY PATIENT HISTORY FORM

1. Transport 3 mL of whole blood in the original collection container.

Transport to the laboratory refrigerated.

• Grossly hemolyzed

See patient report.

A negative result does not exclude a heritable form of epilepsy.

Diagnostic errors can occur due to rare sequence variations.

Interpretation of this test result may be impacted if the patient has had an allogeneic stem cell transplantation.

The following will not be evaluated:

• Variants outside the coding regions and intron-exon boundaries of the targeted gene(s)
• Variants in the mitochondrial genome
• Regulatory region and deep intronic variants
• Deletions/duplications in the DYNC1H1, EMP2A, FARS2, SLC19A3, and WWOX genes Breakpoints of large deletions/duplications
• Gene conversion events, complex inversions, and translocations
• Repeat expansions (including common expansions in ATN1 exon 5, ARX, and CSTB 5’UTR)
• This assay does not assess for PMM2-associated hyperinsulinemic hypoglycemia and polycystic kidney disease (HIPKD)

• Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication