Actionable Epilepsy NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Epilepsy
Seizures
Spasms

This panel is designed to provide fast results for predictive medical intervention for a patient experiencing seizure activity.
Fulgent's Actionable Epilepsy Panel is appropriate for babies and children who develop infantile spasms or experience seizures. This panel includes genes associated with specific drug response to help patients receive the appropriate treatment faster. 
The Actionable Epilepsy Panel analyzes genes associated with epilepsy that could have immediate implications for treatment and guide recommendations for further medical care.

Test Description

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  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
2 - 3 weeks
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ADRA2B, ALDH7A1, FOLR1, GAMT, GATM, KCNQ2, KCNQ3, KCNT1, MECP2, PCDH19, PNPO, POLG, PRRT2, QDPR, SCN1A, SCN2A, SCN8A, SLC19A3, SLC2A1, SLC6A8, STXBP1, TSC1, TSC2 ( 23 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Gene Notes
MECP2Currently available technologies (NGS and qPCR) are not amenable to detection of single exon deletions/duplications of exon 1 in the MECP2 gene.
CPT Code 81302, 81304, 81405x3, 81406x6, 81407x2, 81479x2**
**If Fulgent is billing Insurance directly, our policy is to not bill more than two units of 81479 for any test. There are 10 instances of 81479 for Seq & Del/Dup for this test. Please consult with your specific payer or policies regarding 81479.

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

Resources

DescriptionDownload
Epilepsy Fact Sheet for Patients