Epileptic Encephalopathy


Test Details
TEST CODE NGS386
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 136
CPT CODE 81302, 81304, 81406 x2, 81407, 81404
PRICE $1995
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

Order Kit


Clinical Information
Clinical Significance Epileptic encephalopathies are severe brain disorders of early age that manifest with: electrographic EEG paroxysmal activity that is often aggressive, seizures that are usually multi-form and intractable, cognitive, behavioral, and neurological deficits that may be relentless, and sometimes early death. The accompanying seizures are characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported type involves bending at the waist and neck and extending the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals do not usually have spasms while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually stop by age 5, but many children then develop other types of seizures that recur throughout their lives.
Relevant Diseases
  • Epileptic encephalopathy

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
ACY1
ALDH7A1
ALG13
AMACR
AMT
ARHGEF9
ARX
ASNS
ASXL2
ATP5A1
BCL11B
BOLA3
BSCL2
C10ORF2
CACNA1A
CACNA2D2
CAD
CARS2
CDKL5
CHD2
CLP1
COG7
COG8
COQ2
COQ4
COQ9
CPT1A
CPT2
D2HGDH
DENND5A
DGUOK
DLD
DNM1
DNM1L
DOCK7
DPYS
EEF1A2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ETHE1
FARS2
FASTKD2
FBXL4
FGF12
FH
FKTN
FOLR1
FOXG1
FOXRED1
FRRS1L
GABRA1
GABRB3
GCDH
GCK
GCSH
GFM1
GLDC
GLUL
GNAO1
GRIN1
GRIN2A
GRIN2B
GRIN2D
GUF1
HADH
HCFC1
HCN1
IBA57
IER3IP1
ITPA
KCNB1
KCNQ2
KCNQ3
KCNT1
L2HGDH
LAMB1
LIAS
MECP2
MEF2C
MLC1
MOCS1
MOCS2
MRPS22
NAXE
NECAP1
NPRL3
NRXN1
OCLN
PDSS2
PHGDH
PIGA
PIGO
PIK3R2
PLCB1
PNPO
POLG
PURA
RMND1
ROGDI
SCN1A
SCN1B
SCN2A
SCN8A
SERPINI1
SLC13A5
SLC19A3
SLC1A2
SLC25A1
SLC25A12
SLC25A22
SLC35A2
SLC6A9
SLC9A6
SMC1A
SON
SPR
SPTAN1
ST3GAL3
ST3GAL5
STXBP1
SUCLA2
SYNGAP1
SZT2
TBC1D24
TBCD
TMTC3
TREX1
TSC1
TSC2
TSFM
WWOX

Back to Test Directory