EPILEPSY
GABRD

Mutations in the GABA-A receptor delta gene (GABRD) are associated with autosomal dominant forms of epilepsy including generalized epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (OMIM 613060). Genetic testing for GABRD 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 GABRD
CPT Codes 83891 x 1, 83898 x 8, 83904 x 8, 83909 x 8, 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

GABRD

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

Dibbens et al. (2004) GABRD encoding a protein for extra- or peri-synaptic GABA-A receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet. 13:1315-9, PubMed 15115768.

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.