Myoclonic Epilepsy
Test Details
| TEST CODE | NGS412 |
| TEST METHODOLOGY | NGS |
| TAT (TURNAROUND TIME) | 2 - 4 weeks |
| GENES | 124 |
| CPT CODE | 81403, 81404, 81406, 81479 |
| PRICE | $1995 |
| RECOMMENDED MNG KITS |
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SINGLE Blood Genetic Testing 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 |
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Specimen Information
| Acceptable Sample Types |
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| 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). |
