Comprehensive Epilepsy + mtDNA


Test Details
TEST CODE NGS385
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 813
CPT CODE 81460, 81465, 81405 x2, 81406 x3, 81407 x1, 81479
PRICE $2495
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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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
AASS
ABAT
ABCC8
ABCD1
ABCD4
ACADM
ACADS
ACADSB
ACO2
ACOX1
ACSF3
ACTB
ACTG1
ACVRL1
ACY1
ADAMTSL2
ADCK3
ADD3
ADK
ADNP
ADRA2B
ADSL
AFG3L2
AGA
AIFM1
AIMP1
AKT1
AKT2
AKT3
ALDH3A2
ALDH4A1
ALDH5A1
ALDH7A1
ALDOB
ALG1
ALG11
ALG12
ALG13
ALG2
ALG3
ALG6
ALPL
ALX3
ALX4
AMACR
AMER1
AMPD2
AMT
ANKLE2
ANKRD11
ANTXR1
AP1S2
AP3B2
AP3D1
AP4B1
AP4E1
AP4M1
APOA1BP
APOL2
APOL4
APOPT1
AQP2
ARCN1
ARFGEF2
ARG1
ARHGAP31
ARHGDIA
ARHGEF9
ARSA
ARV1
ARX
ASAH1
ASL
ASNS
ASPA
ASPM
ASS1
ASXL1
ASXL2
ATIC
ATM
ATP13A2
ATP1A2
ATP1A3
ATP2A2
ATP5A1
ATP6AP1
ATP6AP2
ATP6V0A2
ATP6V1A
ATP7A
ATR
ATRX
AUTS2
AVPR2
B3GALTL
BCAP31
BCKDHA
BCKDHB
BCL10
BCL11B
BCS1L
BOLA3
BRAT1
BSCL2
BTD
BUB1B
C10ORF2
C12ORF57
C2CD3
CACNA1A
CACNA1D
CACNA1G
CACNA1H
CACNA2D2
CACNB4
CAD
CAMK2A
CAMK2B
CARS2
CASK
CASQ2
CASR
CBS
CCBE1
CCDC115
CCDC88A
CCDC88C
CCM2
CD96
CDK5
CDKL5
CECR1
CENPE
CENPJ
CEP164
CERS1
CFH
CFHR1
CFHR3
CHD1
CHD2
CHRNA2
CHRNA4
CHRNB2
CIC
CIT
CKAP2L
CLCN2
CLCN4
CLCNKA
CLCNKB
CLDN16
CLIC2
CLN3
CLN5
CLN6
CLN8
CLP1
CLPB
CNKSR2
CNNM2
CNTN2
CNTNAP2
COG2
COG6
COG7
COG8
COL18A1
COL4A1
COL4A2
COL4A3BP
COL6A2
COQ2
COQ4
COQ9
COX10
COX14
COX15
COX20
COX6B1
COX8A
CPA6
CPS1
CPT1A
CPT2
CRB2
CREBBP
CRIPT
CRLF1
CSNK2A1
CSTB
CTC1
CTLA4
CTSA
CTSD
CTSF
CUL4B
CYP24A1
CYP27A1
CYP27B1
D2HGDH
DAG1
DBT
DCHS1
DCX
DDC
DDX3X
DENND5A
DEPDC5
DGUOK
DHCR24
DHCR7
DHFR
DIAPH1
DIP2B
DLD
DNAJC5
DNASE1
DNM1
DNM1L
DOCK6
DOCK7
DONSON
DPAGT1
DPM1
DPM2
DPYD
DPYS
DYNC1H1
DYNC2H1
DYRK1A
EARS2
EBP
ECE1
ECM1
EEF1A2
EFHC1
EFTUD2
EHMT1
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELOVL4
EML1
ENG
EPG5
EPM2A
ERCC6
ERCC8
ESCO2
ETHE1
EXT2
FA2H
FADD
FAM111A
FAR1
FARS2
FASTKD2
FAT4
FBP1
FBXL4
FCGR2A
FCGR2B
FGD1
FGF12
FGF3
FGFR1
FGFR2
FGFR3
FH
FKRP
FKTN
FLNA
FMN2
FOLR1
FOXG1
FOXRED1
FRMPD4
FRRS1L
FTL
FTO
FUCA1
FXYD2
GABRA1
GABRB1
GABRB3
GABRD
GABRG2
GAL
GALC
GAMT
GATM
GBA
GCDH
GCH1
GCK
GCM2
GCSH
GFAP
GFM1
GJA1
GJC2
GK
GLA
GLB1
GLDC
GLI2
GLRA1
GLUD1
GLUL
GLYCTK
GM2A
GNAO1
GNAQ
GNAS
GNB1
GNE
GNS
GOSR2
GPC3
GPHN
GPR56
GPR98
GPX4
GRIA3
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRN
GSS
GUCY1A3
GUF1
GYS2
H19
HACE1
HADH
HAX1
HCCS
HCFC1
HCN1
HCN4
HECW2
HEPACAM
HERC1
HEXA
HGSNAT
HIBCH
HIVEP2
HLA-DQA1
HLA-DQB1
HLCS
HMBS
HNRNPH2
HNRNPU
HPD
HRAS
HSD17B10
HSD17B4
HSPD1
HYLS1
IBA57
ICK
IDS
IER3IP1
IFNG
IKBKG
INSR
IQSEC2
IRF3
ISG15
ITPA
IVD
JAK2
JAM3
KANSL1
KAT6A
KAT6B
KATNB1
KCNA1
KCNA2
KCNB1
KCNC1
KCNH1
KCNH2
KCNJ1
KCNJ10
KCNJ11
KCNJ6
KCNMA1
KCNQ2
KCNQ3
KCNT1
KCTD7
KDM5C
KDM6A
KIAA0226
KIAA2022
KIF11
KIF14
KIF2A
KIF5C
KIF7
KLHL15
KMT2A
KMT2C
KMT2D
KRAS
KRIT1
KRT8
L1CAM
L2HGDH
LAGE3
LAMA1
LAMA2
LAMB1
LAMC3
LARGE
LARS
LARS2
LAS1L
LBR
LGI1
LIAS
LIPT2
LMAN2L
LMNB2
LONP1
LYST
MAF
MAGEL2
MAGI2
MANBA
MAPRE2
MBD5
MBOAT7
MBTPS2
MC2R
MCCC1
MCCC2
MCPH1
MECP2
MED12
MED17
MEF2C
MFF
MFSD2A
MFSD8
MGAT2
MGP
MLC1
MLH1
MLYCD
MMAA
MMACHC
MMADHC
MOCS1
MOCS2
MOGS
MPDZ
MRPS22
MSH2
MSH6
MSX2
MTHFR
MTOR
MTR
MTRR
MYH3
MYO5A
NAA10
NACC1
NADK2
NAGA
NAGLU
NAGS
NALCN
NANS
NAT8L
NBAS
NDE1
NDN
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFB11
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NECAP1
NEDD4L
NEU1
NGLY1
NHLRC1
NIN
NIPBL
NLGN4X
NOL3
NONO
NOTCH3
NPC1
NPC2
NPRL2
NPRL3
NRAS
NRXN1
NSD1
NSDHL
NUBPL
NUS1
OBFC1
OCLN
OCRL
OFD1
OMG
OPHN1
OSGEP
OTC
OTX2
PACS1
PAFAH1B1
PAH
PAK3
PANK2
PAX2
PAX6
PC
PCCA
PCCB
PCDH19
PCLO
PDCD10
PDHA1
PDHX
PDP1
PDSS2
PET100
PEX1
PEX2
PEX5
PEX7
PGAP3
PGBD3
PGK1
PHF6
PHGDH
PIGA
PIGG
PIGL
PIGM
PIGN
PIGO
PIGP
PIGT
PIGV
PIGW
PIGY
PIK3CA
PIK3R2
PLA2G6
PLCB1
PLEKHG2
PLK4
PLP1
PMM2
PMS2
PNKD
PNKP
PNPLA8
PNPO
POLG
POLG2
POMGNT1
POMT1
POMT2
PPA2
PPP1R15B
PPP2R1A
PPP2R5D
PPP3CA
PPT1
PQBP1
PRDM8
PRF1
PRICKLE1
PRICKLE2
PRKDC
PRMT7
PROC
PRODH
PROK2
PROKR2
PROP1
PROSC
PRPS1
PRRT2
PRRX1
PSAP
PSAT1
PSEN1
PSPH
PTCH1
PTCH2
PTEN
PTF1A
PTH
PTPN22
PTS
PURA
PUS3
PYCR2
QARS
QDPR
RAB18
RAB27A
RAB39B
RAC1
RAI1
RARS2
RBM8A
RELN
RFT1
RMND1
RNASEH1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF125
ROGDI
RPIA
RPS6KA3
RRM2B
RTN4IP1
RTTN
RYR2
SAMD9
SAMHD1
SASS6
SATB2
SCARB2
SCN1A
SCN1B
SCN2A
SCN8A
SCN9A
SCO1
SDHA
SDHAF1
SDHD
SEPSECS
SERPINI1
SETBP1
SETD2
SGCE
SGPL1
SGSH
SHANK3
SHH
SIK1
SIN3A
SIX3
SLC12A1
SLC12A3
SLC12A5
SLC12A6
SLC13A5
SLC16A1
SLC17A5
SLC19A2
SLC19A3
SLC1A2
SLC25A1
SLC25A12
SLC25A15
SLC25A19
SLC25A20
SLC25A22
SLC2A1
SLC35A2
SLC35A3
SLC35C1
SLC39A8
SLC46A1
SLC4A1
SLC6A1
SLC6A19
SLC6A8
SLC6A9
SLC9A6
SMAD4
SMARCA2
SMARCB1
SMC1A
SMC3
SMG9
SMS
SNAP25
SNAP29
SNIP1
SNORD118
SNRPN
SNX14
SON
SOX2
SPATA5
SPR
SPTAN1
SRPX2
ST3GAL3
ST3GAL5
STAG1
STAMBP
STIL
STRADA
STX11
STX1B
STXBP1
SUCLA2
SUFU
SUOX
SURF1
SYN1
SYNGAP1
SYP
SZT2
TACO1
TANGO2
TBC1D24
TBCD
TBCE
TBCK
TBL1XR1
TBX1
TCF4
TCIRG1
TDP2
TECPR2
TGDS
THOC2
TIMMDC1
TMEM126B
TMTC3
TP53
TP53RK
TPP1
TRAPPC11
TREM2
TREX1
TRIO
TRPM6
TSC1
TSC2
TSEN15
TSEN54
TSFM
TTR
TUBA1A
TUBA8
TUBB2A
TUBB2B
TUBB4A
TUBG1
TUBGCP6
TXN2
TYROBP
UBA5
UBB
UBE2A
UBE3A
UBTF
UNC80
UPB1
USP18
VARS
VDR
VPS11
VPS13A
VPS53
WAC
WDR45
WDR62
WDR73
WFS1
WWOX
XK
XPA
XPNPEP3
XPR1
ZC4H2
ZDHHC9
ZEB2
ZNHIT3
ZSWIM6

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