Specimen:

Whole Blood

Collection Medium:

Minimum:

Adults:  10 mL Whole Blood
Pediatrics:  5-6 Whole Blood

Analytic Time:

4 weeks

Comments:

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 forms to the lab, with 
the specimen and the A-1a Miscellaneous Request:

Test Requisition Form

   and the

Informed Consent for DNA Testing from Transgenomic Molecular 
Laboratory

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

Test
Limitations:

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.

Methodology:

Scanning and sequence analysis of the entire coding region.

CPT Code:

83891, 83898(x29), 83903(x21), 83904(x16)