EPILEPSY
SCN2A

Mutations in the sodium channel gene SCN2A are associated with autosomal dominant forms of epilepsy including benign familial neonatal-infantile seizures and Dravet syndrome (OMIM 182390). Genetic testing for SCN2A is available on its own or as part of the Transgenomic Febrile Seizures Panels, which include the genes SCN1A, SCN1B, SCN2A, GABRD, GABRG2 and additionally PCDH19 for females.
 
Test Order Code SCN2A
CPT Codes 83891 x 1, 83898 x 31, 83904 x 31, 83909 x 31, 83912 x 1
Indications For Testing This test should be offered in the context of genetic counseling prior to and after test completion.

  • Confirmation of a clinical diagnosis
  • Assistance with a clinical diagnosis
  • Genetic counseling
Gene

SCN2A

Turn Around Time

 Three weeks.
Specimen Requirements

Ship one of the following:

Saliva
You must order either the DNA Specimen Collection Kit – Sponge Swab (Part Number 443006) or the DNA Specimen Collection Kit – Saliva Tube (Part Number 443007) from Transgenomic to send a saliva sample. Follow the directions in the kit for specific saliva collection requirements.

Peripheral Blood
A full 4 ml blood sample in the 4 ml Lavender-top (EDTA) tube provided in the DNA Specimen Collection Kit (Part Number 443002) is required. Keep the sample at ambient temperature and ship by overnight courier to the test laboratory.

Specimen Kits DNA Specimen Collection Kits can be obtained from Transgenomic Labs.
Shipping and Contact Information Transgenomic Labs
Five Science Park, New Haven, CT 06511 USA
Phone:1.877.274.9432 Fax: 203.786.3418
E-mail: labservice@transgenomiclabs.com
Test Submission  and Patient Consent Forms Test Requisition and Patient Consent Form

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

Test Methodology All coding exons and flanking intronic regions of the gene SCN2A and are analyzed by direct sequencing.
References
  1. Berkovic et al. (2004) Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol. 55:550-7, PubMed 15048894.
  2. Shi et al. (2009) Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain Dev. 31:758-62, PubMed 19783390.
  3. Ogiwara et al. (2009) De novo mutations of voltage-gated sodium channel alpha II gene SCN2A in intractable epilepsies. Neurology. 73:1046-53, PubMed 19786696.
  4. Liao et al. (2010) SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology. 75:1454-8, PubMed 20956790.

Note: The performance characteristics of this test were validated by Transgenomic Labs. The U.S. Food and Drug Administration (FDA) has not approved this test. However, FDA approval is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. Transgenomic Labs is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.