Progressive Myoclonic Epilepsy NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Epilepsy
Seizures
Spasms

Progressive myoclonic epilepsy (PME) is a group of diseases involving the central nervous system that share some common symptoms. These include progression of symptoms, muscle contractions (myoclonus) and seizures. PME is different from myoclonic epilepsy in that the myoclonic jerking involved with PME can occur independently from seizure activity, unlike with myoclonic epilepsy where the two symptoms occur together.Fulgent's Progressive Myoclonic Epilepsy Panel is recommended for patients who have myoclonus with independent seizure activity.Identification of the specific genetic etiology can help patients in the following ways: 
  • Confirm a clinical diagnosis or genetic syndrome 
  • Help determine medical management  
  • Provide information about clinical course of disease 
  • Family testing for at-risk relatives

Test Description

Print
Download TRF
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3 - 5 weeks
Call for details
ADRA2B, CLN3, CLN5, CLN6, CLN8, CSTB, EPM2A, GOSR2, GRN, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1 ( 16 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
CSTBThe current testing method does not assess repeat expansions in this gene.
CPT Code 81401x1, 81403x1, 81404x2, 81406x1, 81479x2**
**If Fulgent is billing Insurance directly, our policy is to not bill more than two units of 81479 for any test. There are 24 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