• Test Code:
    1675
  • Department:
  • Test Synonyms:
    West SyndromeADSLALDH5A1ALDH7A1AMTARXBTDCDKL5CLN3CLN5CLN6CLN8CNTNAP2CTSDFOLR1FOXG1GABRG2GAMTGCH1GLDCGRIN2AKCNJ10KCNQ2KCNQ3KCTD7LIASMAGI2MBD5MECP2MEF2CMFSD8 MMACHCMTHFRNRXN1PCBD1PHGDHPNKPPNPOPOLGPPT1PRRT2PTSQDPRSCN1ASCN1BSCN2ASCN8ASLC25A22SLC2A1SLC6A8SLC9A6SPTAN1STXBP1TBC1D24TCF4TPP1TSC1TSC2UBE3AWDR45ZEB2
  • CPT Code(s):
    8130281404x681405x481406x981407x281479x38
Background:

Neurological disorders include a large group of conditions with genetic and phenotypic heterogeneity and often have overlapping clinical features, such as intellectual disability, seizures, microcephaly, motor disability, brain malformations (lissencephaly, molar tooth sign), vision loss, speech difficulties, and respiratory failure. Epilepsy is a common neurological disorder characterized by recurrent, unprovoked seizures. Infantile Epilepsy, also known as West Syndrome, is a rare, age specific type of epilepsy characterized by recurrent episodes of seizures beginning between 3-12 months of age and lasting until 4 years of age. This next-generation sequencing test is designed to detect mutations in the coding region of 60 genes associated with Infantile Epilepsy.

Reasons for Referral:

  • Electroencephalogram results suspicious for epilepsy.
  • Occurrence of seizures.
  • Positive family history for epilepsy (targeted testing is available if familial mutation is known).
  • Carrier testing.

Methodology:

Next generation sequencing will analyze the exons or coding regions of 60 Infantile Epilepsy-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

The 60 Infantile Epilepsy-associated genes are listed below:
ADSL, ALDH5A1, ALDH7A1, AMT, ARX, BTD, CDKL5, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, FOLR1, FOXG1, GABRG2, GAMT, GCH1, GLDC, GRIN2A, KCNJ10, KCNQ2, KCNQ3, KCTD7, LIAS, MAGI2, MBD5, MECP2, MEF2C, MFSD8, MMACHC, MTHFR, NRXN1, PCBD1, PHGDH, PNKP, PNPO, POLG, PPT1, PRRT2, PTS, QDPR, SCN1A, SCN1B, SCN2A, SCN8A, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weeky

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. http://www.epilepsy.com/

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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