Comprehensive Epilepsy + mtDNA


Test Details
TEST CODE NGS385
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 552
CPT CODE 81460, 81465, 81405 x2, 81406 x3, 81407 x1, 81479
PRICE $2495
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

Order Kit


Clinical Information
Clinical Significance

Epilepsy is a chronic seizure disorder or group of disorders (more than one seizure within 6 months) characterized by seizures that usually recur unpredictably in the absence of a consistent provoking factor. They can be classified into the following categories: Partial seizures – Cortical origin (Affecting one hemisphere), Generalized seizures – Subcortical Origin (Affecting both hemispheres), Unclassified Seizures – Neonatal, and Status Epilepticus – Seizures occur repeatedly with no recovery of consciousness between attacks.

Most epilepsy syndromes are genetically heterogeneous; pathogenic variants in different genes cause the same syndrome in different individuals or families, and only a fraction of the potential genetic causes have so far been identified. Genetic assessment is enhanced when clinical information is available. Although a positive test result can confirm or suggest that an individual has a specific syndrome, a negative test result might be uninformative. For instance, fewer than one in five individuals with autosomal dominant nocturnal frontal lobe epilepsy have a pathogenic variant in any of the genes currently associated with that disorder. Conversely, in syndromes with incomplete penetrance and variable expressivity, a positive test result in an unaffected family member does not necessarily mean that the individual will develop epilepsy in the future, nor can it predict the specific phenotype if the individual does. An important example of this problem is genetic epilepsy with febrile seizures plus (GEFS+), in which some family members with a SCN1A variant remain unaffected, and phenotypes in affected family members vary from simple age-limited febrile seizures to severe epileptic encephalopathies (PMID:24733164).

Relevant Diseases
  • Comprehensive Epilepsy

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80°Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed
AARS
ABAT
ABCC8
ABCD1
ACADM
ACADS
ACADSB
ACO2
ACOX1
ACSF3
ACTB
ACTG1
ACVRL1
ACY1
ADAMTSL2
ADCK3
ADD3
ADK
ADNP
ADSL
AFG3L2
AGA
AIFM1
AIMP1
AKT2
AKT3
ALDH3A2
ALDH5A1
ALDH7A1
ALDOB
ALG1
ALG11
ALG12
ALG13
ALG2
ALG3
ALG6
AMACR
AMPD2
AMT
AP1S2
AP3B2
AP3D1
AP4B1
AP4E1
AP4M1
APOPT1
ARCN1
ARFGEF2
ARG1
ARHGEF9
ARSA
ARX
ASAH1
ASL
ASNS
ASPA
ASPM
ASS1
ASXL2
ATIC
ATM
ATP13A2
ATP1A2
ATP1A3
ATP2A2
ATP5A1
ATP6AP2
ATP6V0A2
ATP7A
ATRX
AUTS2
BCKDHA
BCKDHB
BCL11B
BCS1L
BOLA3
BSCL2
BTD
C10ORF2
C12ORF57
CACNA1A
CACNA1G
CACNA1H
CACNA2D2
CACNB4
CAD
CARS2
CASK
CASQ2
CASR
CBS
CCDC88A
CCDC88C
CCM2
CDKL5
CECR1
CENPJ
CERS1
CHD2
CHRNA2
CHRNA4
CHRNB2
CIT
CLCN2
CLCN4
CLCNKA
CLCNKB
CLIC2
CLN3
CLN5
CLN6
CLN8
CLP1
CNKSR2
CNTNAP2
COG6
COG7
COG8
COL4A1
COL6A2
COQ2
COQ4
COQ9
COX10
COX14
COX15
COX20
COX6B1
COX8A
CPA6
CPS1
CPT1A
CPT2
CREBBP
CSTB
CTSA
CTSD
CTSF
CUL4B
CYP27A1
D2HGDH
DBT
DCX
DDC
DENND5A
DEPDC5
DGUOK
DHCR24
DHCR7
DHFR
DLD
DNAJC5
DNM1
DNM1L
DOCK7
DPAGT1
DPM1
DPM2
DPYD
DPYS
DYNC1H1
DYRK1A
EARS2
EBP
EEF1A2
EFHC1
EHMT1
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELOVL4
ENG
EPM2A
ERCC6
ERCC8
ETHE1
EXT2
FA2H
FAM111A
FARS2
FASTKD2
FBP1
FBXL4
FGD1
FGF12
FH
FKRP
FKTN
FLNA
FOLR1
FOXG1
FOXRED1
FRMPD4
FRRS1L
FTL
FUCA1
GABRA1
GABRB3
GABRD
GABRG2
GAL
GALC
GAMT
GATM
GBA
GCDH
GCH1
GCK
GCSH
GFAP
GFM1
GJA1
GJC2
GK
GLA
GLB1
GLDC
GLI2
GLRA1
GLUD1
GLUL
GM2A
GNAO1
GNAQ
GNE
GNS
GOSR2
GPC3
GPHN
GPR56
GPR98
GRIA3
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRN
GSS
GUF1
GYS2
HADH
HCCS
HCFC1
HCN1
HCN4
HECW2
HEPACAM
HEXA
HGSNAT
HLCS
HMBS
HNRNPH2
HPD
HRAS
HSD17B10
HSD17B4
HSPD1
IBA57
IDS
IER3IP1
IQSEC2
ITPA
KANSL1
KCNA1
KCNB1
KCNC1
KCNH2
KCNJ1
KCNJ11
KCNMA1
KCNQ2
KCNQ3
KCNT1
KCTD7
KDM5C
KDM6A
KIAA2022
KIF2A
KIF7
KMT2D
KRAS
L1CAM
L2HGDH
LAMA2
LAMB1
LAMC3
LARGE
LARS2
LGI1
LIAS
LYST
MAGI2
MANBA
MBD5
MBOAT7
MBTPS2
MCCC1
MCPH1
MECP2
MED12
MEF2C
MFSD2A
MFSD8
MGAT2
MLC1
MLYCD
MMAA
MMACHC
MMADHC
MOCS1
MOCS2
MOGS
MPDZ
MRPS22
MTHFR
MTR
MTRR
MYH3
NAA10
NAGA
NAGLU
NAGS
NANS
NAXE
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFB11
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NECAP1
NEU1
NGLY1
NHLRC1
NIPBL
NLGN4X
NOL3
NOTCH3
NPC1
NPC2
NPRL2
NPRL3
NRAS
NRXN1
NSD1
NSDHL
NUBPL
OCLN
OCRL
OFD1
OMG
OPHN1
OTC
PACS1
PAFAH1B1
PAH
PAK3
PANK2
PAX6
PC
PCDH19
PDCD10
PDHA1
PDHX
PDP1
PDSS2
PEX1
PEX2
PEX5
PEX7
PGAP3
PGBD3
PGK1
PHF6
PHGDH
PIGA
PIGL
PIGM
PIGN
PIGO
PIGT
PIGV
PIGY
PIK3CA
PIK3R2
PLA2G6
PLCB1
PLEKHG2
PLP1
PMM2
PNKD
PNKP
PNPO
POLG
POLG2
POMGNT1
POMT1
POMT2
PPT1
PQBP1
PRICKLE1
PRICKLE2
PRMT7
PROSC
PRPS1
PRRT2
PSAP
PSEN1
PSPH
PTCH1
PTEN
PTS
PURA
PUS3
QDPR
RAB39B
RAI1
RARS2
RELN
RFT1
RMND1
RNASEH1
RNASEH2A
RNASEH2B
RNASEH2C
ROGDI
RPS6KA3
RRM2B
RTTN
RYR2
SAMHD1
SASS6
SATB2
SCARB2
SCN1A
SCN1B
SCN2A
SCN8A
SCN9A
SCO1
SDHA
SDHAF1
SDHD
SEPSECS
SERPINI1
SETBP1
SETD2
SGCE
SGSH
SHANK3
SHH
SIX3
SLC12A1
SLC12A3
SLC12A6
SLC13A5
SLC16A1
SLC17A5
SLC19A2
SLC19A3
SLC1A2
SLC25A1
SLC25A12
SLC25A19
SLC25A20
SLC25A22
SLC2A1
SLC35A2
SLC35C1
SLC46A1
SLC6A1
SLC6A8
SLC6A9
SLC9A6
SMAD4
SMARCA2
SMARCB1
SMC1A
SMC3
SMS
SNAP25
SNAP29
SNORD118
SON
SPR
SPTAN1
SRPX2
ST3GAL3
ST3GAL5
STIL
STRADA
STX1B
STXBP1
SUCLA2
SUOX
SURF1
SYN1
SYNGAP1
SYP
SZT2
TACO1
TBC1D24
TBCD
TBL1XR1
TBX1
TCF4
TMTC3
TPP1
TREM2
TREX1
TSC1
TSC2
TSEN54
TSFM
TTR
TUBA1A
TUBA8
TUBB2A
TUBB2B
TUBB4A
TUBG1
TYROBP
UBA5
UBE2A
UBE3A
VPS53
WDR45
WDR62
WFS1
WWOX
XPA
ZC4H2
ZDHHC9
ZEB2

Back to Test Directory