Myoclonic Epilepsy


Test Details
TEST CODE NGS412
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 102
CPT CODE 81403, 81404, 81406, 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.

Genes associated with focal or generalized seizures with rapid uncontrolled synchronous muscle movements seen in patients with a history of myoclonic epilepsy, toxic or metabolic disorders or after global hypoxic or ischemic injury, such as cardiac arrest. These show good response to drugs (benzodiazepines and valproate).

Relevant Diseases
  • Myoclonic 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
ADSL
AFG3L2
ALDH5A1
ALDH7A1
AMACR
AMPD2
AMT
AP3D1
ARX
ASAH1
ASPA
ATM
ATP1A3
BOLA3
BSCL2
CACNA2D2
CACNB4
CARS2
CDKL5
CERS1
CHD2
CLCN2
CLN3
CLN5
CLN6
CLN8
COL6A2
CSTB
CTSD
CTSF
DDC
DGUOK
DNAJC5
DPYS
DYNC1H1
EFHC1
ELOVL4
EPM2A
FARS2
FGF12
FOLR1
FRRS1L
GABRA1
GABRD
GCSH
GLB1
GLDC
GLRA1
GOSR2
GPR98
GRIA3
GRN
GUF1
IER3IP1
KCNC1
KCTD7
LIAS
MBOAT7
MECP2
MFSD8
NAGA
NDUFA1
NEU1
NHLRC1
NOL3
PC
PCDH19
PGAP3
PIGA
PNPO
PPT1
PRICKLE1
PRICKLE2
PRMT7
PROSC
PSAP
PSEN1
PURA
RFT1
RMND1
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
SCARB2
SCN1A
SEPSECS
SERPINI1
SETD2
SGCE
SLC1A2
SLC25A22
SLC2A1
SLC6A1
ST3GAL5
STX1B
STXBP1
TBC1D24
TPP1
TREM2
TYROBP

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