Whole Blood

	and		and
Lavender top tube 4 mL (EDTA)		Lavender top tube 4 mL (EDTA)		Lavender top tube 4 mL (EDTA)

4 weeks

Genetic screening is performed first and if positive, testing is complete. Deletion/duplication test will be performed reflexively when screen is negative and will be charged appropriately.

An individual that presents clinical features characteristic of GEFS +2 or SMEI. 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

Please print, complete and submit the following form to the lab, with the specimen and the A-1a Miscellaneous Request or Epic Req:

Test Requisition and Patient Consent Form

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

The method will not detect mutations located in regions of the genes that are not analyzed (non-coding exon sequences, intron sequences other than the splice junctions, and upstream and downstream sequences). The method also will not detect gross genetic alterations including most large deletions, duplications, and inversions. Some sequence alterations detected by this assay will be of unknown clinical relevance. Interpretation of test results should be in the context of the patient's clinical history and other laboratory test results.

Scanning and sequence analysis of the entire coding region.

Point Mutation Analysis and Microdeletion Detection (SCN1A) are run first; if the result is negative, then Large Scale Deletion/Duplication (SCN1A-MLPA) is run.

CPT for Negative results=83891 x1, 83896 x26, 83898 x34, 83901 x24, 83904 x34, 83909 x35, 83892 x1 and 83900 x1.
CPT for Positive results=83891 x1, 83898 x34, 838904 x34, 83909 x34