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.
- 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.
- Individuals with epilepsy.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 10 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- 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.