Epilepsy and Seizure Disorders
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 mono genetic causes while the rest are thought to be due to multifactorial genetic and environmental causes. Of the mono genetic genes identified, the majority code for ion channel sub units and neuro transmitter receptors.
ABAT, ABAT, ADGRG1, ADGRV1, ADSL, ADSL, ALDH5A1, ALDH5A1, ALDH7A1, ALDH7A1, ARHGEF9, ARHGEF9, ARX, ARX, ASPM, ASPM, ATP1A2, ATP1A2, ATP6AP2, ATP6AP2, BCKDK, BCKDK, CACNA1A, CACNA1A, CACNB4, CACNB4, CASK, CASK, CASR, CASR, CDKL5, CDKL5, CENPJ, CENPJ, CHRNA2, CHRNA2, CHRNA4, CHRNA4, CHRNB2, CHRNB2, CLN3, CLN3, CLN5, CLN5, CLN6, CLN6, CLN8, CLN8, CNTNAP2, CNTNAP2, CPA6, CPA6, CSTB, CSTB, CTSD, CTSD, CYP27A1, CYP27A1, DCX, DCX, DNAJC5, DNAJC5, EFHC1, EFHC1, EMX2, EMX2, EPM2A, EPM2A, FLNA, FLNA, FOLR1, FOLR1, FOXG1, FOXG1, GABRA1, GABRA1, GABRG2, GABRG2, GAMT, GAMT, GATM, GATM, GOSR2, GOSR2, GRIN2A, GRIN2A, HCN1, HCN1, HCN4, HCN4, KCNA1, KCNA1, KCNJ10, KCNJ10, KCNJ11, KCNJ11, KCNMA1, KCNMA1, KCNQ2, KCNQ2, KCNQ3, KCNQ3, KCNT1, KCNT1, KCTD7, KCTD7, LGI1, LGI1, LIAS, LIAS, MAGI2, MAGI2, MBD5, MBD5, MCPH1, MCPH1, MECP2, MECP2, MEF2C, MEF2C, MFSD8, MFSD8, MTHFR, MTHFR, NDE1, NDE1, NDUFA1, NDUFA1, NHLRC1, NHLRC1, NRXN1, NRXN1, OPHN1, OPHN1, PAFAH1B1, PAFAH1B1, PCDH19, PCDH19, PHF6, PHF6, PLCB1, PLCB1, PNKP, PNKP, PNPO, PNPO, POLG, POLG, PPT1, PPT1, PRICKLE1, PRICKLE1, PRICKLE2, PRICKLE2, PRRT2, PRRT2, RELN, RELN, SCARB2, SCARB2, SCN1A, SCN1A, SCN1B, SCN1B, SCN2A, SCN2A, SCN3A, SCN3A, SCN8A, SCN8A, SCN9A, SCN9A, SHH, SHH, SIX3, SIX3, SLC19A3, SLC19A3, SLC25A19, SLC25A19, SLC25A22, SLC25A22, SLC2A1, SLC2A1, SLC9A6, SLC9A6, SPTAN1, SPTAN1, SRPX2, SRPX2, ST3GAL3, ST3GAL3, ST3GAL5, ST3GAL5, STIL, STIL, STXBP1, STXBP1, SYN1, SYN1, TBC1D24, TBC1D24, TCF4, TCF4, TPP1, TPP1, TSC1, TSC1, TSC2, TSC2, TSEN54, TSEN54, UBE3A, UBE3A, WDR62, WDR62, ZEB2,ZEB2
This test is indicated for:
Individuals with epilepsy.
Next Generation Sequencing: In-solution hybridization of all coding exons is performed on the patient's genomic DNA. Although some deep intronic regions may also be analyzed, this assay is not meant to interrogate most promoter regions, deep intronic regions, or other regulatory elements, and does not detect single or multi-exon deletions or duplications. Direct sequencing of the captured regions is performed using next generation sequencing. The patient's gene sequences are then compared to a standard reference sequence. Potentially causative variants and areas of low coverage are Sanger-sequenced. Sequence variations are classified as pathogenic, likely pathogenic, benign, likely benign, or variants unknown significance. Variants of unknown significance may require further studies of the patient and/or family members.
Next Generation Sequencing: Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient's clinical/biochemical phenotype.
Submit only 1 of the following specimen types
Type: Whole Blood
In EDTA (purple top) tube: Infants (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: 60ug
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.