Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms

Test Code

Test Details

Test code: 6038
Type of disorder: Epilepsy
Disease(s) tested for: Epilepsy
Informed Consent Required: Yes
Special Notes: This test is not available for New York state patient testing. For New York state patient testing, please use test code 5008 until New York state approval is received for test code 6038.

Technical Information

Utility: 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, Custom Microarray Copy Number Variation confirmation
Reference Value: See Laboratory Report

CPT Coding

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: 81403, 81404 (2), 81405, 81406 (2), 81479

Specimen Requirements

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
Adult Preferred Volume: 8 mL
Adult Minimum Volume: 6 mL
Pediatric Preferred Volume: 2 mL
Pediatric Minimum Volume: 1 mL
Collection Tube: Lavender top (EDTA)
Collection Notes: 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.

Shipping Considerations

Storage Conditions: Refrigerate
Shipping Conditions: Ship room temperature, avoid freezing.
Test Turnaround: 28-35 days

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