MNG Xpress™ Actionable Epilepsy


Test Details
TEST CODE NGS418
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 10 - 14 days
GENES 69
CPT CODE 81405 x2, 81406 x3, 81407 x1, 81479
PRICE $1995
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.

The MNG Xpress™ Actionable Epilepsy Panel contains contains a targeted list of epilepsy and seizure related genes - those that are actionable via seizure medications, pharmacological interventions, and dietary changes. Please see our full list of recommended actions for each gene here.


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
ABCC8
ACADM
ACSF3
AKT2
ALDH7A1
ALDOB
ARX
ATP1A2
BCKDHA
BCKDHB
CAD
CBS
CDKL5
COQ2
CPT2
DBT
DHFR
FBP1
FOLR1
FTL
GAMT
GATM
GBA
GCH1
GCK
GLRA1
GLUD1
GYS2
HADH
KCNJ1
KCNJ11
KCNQ2
KCNQ3
KCNT1
MECP2
MEF2C
MMAA
MMACHC
MMADHC
NAGS
PAH
PC
PCDH19
PDHA1
PNKD
PNPO
POLG
PROSC
PRRT2
PTS
QDPR
SCN1A
SCN1B
SCN2A
SCN8A
SCN9A
SLC13A5
SLC16A1
SLC19A2
SLC19A3
SLC25A20
SLC2A1
SLC46A1
SLC6A8
SPR
STX1B
STXBP1
TSC1
TSC2

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