| Test code: | 6038 |
| Type of disorder: | Epilepsy |
| Disease(s) tested for: | Epilepsy |
| Genes Included: |
ARX, CDKL5, FOXG1, GABRB3, GRIN2A, MEF2C, SCN2A, SLC25A22, SPTAN1, STXBP1, ADSL, CACNA2D1, NR2F1 , SLC35A2, ST3GAL3, TBL1XR1, |
| Clinical Significance: | This diagnostic panel detects DNA sequence variants and copy number variations (CNV) in genes associated with Infantile spasms (IS) that are characterized by clusters of epileptic spasms with ictal electrodecrement, usually with onset before the age of 1 year. There have been many variations in terminology describing IS over the years, with the eponym “West syndrome” generally referring to the triad of spasms, hypsarrhythmia, and intellectual disability or regression. Some genes in this panel are also associated with a broader group of developmental disorders that overlap with intractable epilepsy and epileptic encephalopathy. |
| Methodology: |
Next Generation Sequencing, Copy Number Variation Analyses using Next Generation Sequencing, Targeted Microarray
|
| Reference Range: | See Laboratory Report |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
| CPT: | 81404(2), 81406(2), 81479 |
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: |
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: |
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 28-35 days |
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