Epilepsy and Seizure Disorders: Deletion/Duplication Panel

Condition Description

Epilepsy is defined as a disorder in which an individual has recurrent, unprovoked seizures. It has a prevalence of about 5-10 per 1000 people. While the causes of epilepsy are diverse, a significant proportion are considered to be genetic in origin. Epilepsy can occur as part of a clinical spectrum that is associated with a particular genetic syndrome, such as Mowat Wilson syndrome, Dravet syndrome, and “chromosomal” epilepsies. Common “chromosomal” epilepsies include 1p36 deletion syndrome, Wolf-Hirschhorn syndrome, Angelman syndrome, Miller-Dieker syndrome, 15q inversion-duplication, Down syndrome and ring chromosome 14 and 20. In addition, epilepsy can occur as an isolated finding, 40% of which are believed to be due to genetic causes. Approximately 2% of the genetic causes of isolated epilepsy are due to monogenetic causes while the rest are thought to be due to multifactorial genetic and environmental causes. Of the monogenetic genes identified, the majority code for ion channel subunits and neurotransmitter receptors.    

This test includes deletion/duplication analysis for syndromic and non-syndromic causes of seizures. It is recommended that individuals with seizures have a chromosomal microarray as a first tier test. Please click here for information on our EmArray Cyto and CytoScan SNP Array.

Support for the development of this panel was provided, in part, by a grant from the Epilepsy Foundation to Dr. Andrew Escayg, Associate Professor, Department of Human Genetics.

References:  
  • Michelucci et al., (2012), Curr Neurol Neurosci Rep, 12:445-455.
  • Nicita et al., (2012), Seizure, 21:3-11.
  • Pal et al., (2010), Nat Rev Neurol, 6:445-453.
  • Pandolfo, (2011), Semin Neurol, 31:506-518.
  • Poduri and Lowenstein, (2011), Curr Opin Genet Dev, 21:325-332.

Genes (107)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.

Indications

This test is indicated for:
  • Individuals with epilepsy.

Methodology

Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.

Detection

Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
DNA, Isolated
DNA

Requirements
Microtainer
3µg
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
Whole Blood (EDTA)
WBP

Requirements
EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 24 hours of collection. Do not refrigerate or freeze.
  • CytoScan + SNP and EmArray Cyto.
  • Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
  • Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.
  • Epilepsy and Seizure Disorders: Sequencing Panel.

How to Order