Epilepsy SCN1A Gene Mutation Analysis Generalized Epilepsy with Febrile Seizures Pluss; GEFS+

Last Modified: 12/4/2013 4:01:17 PM

Client Notes:

Due to the unique nature of genetic testing, patients should receive pre-test and post-test counseling. Informed consent is recommended. 

Contact the Laboratory at 266-1500 (Option 1) for Payment Requirements of this test

*Send copy of insurance cards and proper paperwork with specimen to Parkview Health Laboratories

Blank Transgenomic Requisition and Consent

Pre-Authorization is required for this testing.

Specimen Requirements: 7.0 mL (two) Whole Blood in a Lavender Top Tubes - EDTA 
Transport & Storage: Temperature/Stability: 48 hours Ambient
Reference Range: Refer to Interpretive Results
Methodology: Multiple
Clinical Significance: The SCN1A gene codes for the alpha subunit of a neuronal voltage-gated sodium channel and is located on chromosome 2q containing 26 exons. Mutations in SCN1A are the cause of generalized epilepsy with febrile seizures in children and afebrile seizures in adults plus type 2 (GEFS+2). Penetrance is incomplete and a large intrafamilial variability of the phenotype is observed. Missense mutations in this gene have been recently reported in families with severe myoclonic epilepsy of infancy (SMEI). Early manifestations of the disease are tonic, clonic, and tonic-clonic seizures that occur within the first year of life. These seizures are often prolonged, generalized, and associated with fever. Later in life, patients with SMEI have afebrile seizures, including myoclonic, tonic-clonic, absence, and simple and complex partial seizures. Early psychomotor and speech development is normal, but developmental stagnation occurs by the second year. Defects in SCN1A are also the cause of familial hemiplegic migraine 3 (FHM3). FHM3 is an autosomal dominant severe subtype of migraine with aura characterized by some degree of hemiparesis during attacks. The episodes are associated with variable features of nausea, vomiting, photophobia and phonophobia. Age at onset ranges from 6 to 15 years. Defects in SCN1A are the cause of familial febrile convulsions 3 (FEB3) also known as familial febrile seizures 3. Febrile convulsions affect 5-12% of infants and children up to 6 years of age.
Custom Panel: No


Turn Around Time: 3 to 4 weeks
Days Performed: Monday, Tuesday, Wednesday, Thursday
Other Testing Facility: Transgenomic Labs
PHL Test Code: SMLPA
EPIC Test Code:
Send Out Test Code: SCN1A-DEL/DUP
Alternate Test Names: SCN1A-DEL/DUP; SCN1A-MLPA
CPT Coding: 83891 x 1, 83892 x 1, 83896 x 26, 83900 x 1, 83901 x 24, 83909 x 1, 83912 x 1

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