Epilepsy NGS panel

Epilepsy
NGS panel

Genes
(full
coding region):
AARS1, ABAT, ACTL6B, ACY1, ADAM22, ADAR, ADSL, ALDH5A1, ALDH7A1, ALG3, ALG13, AMT, AP3B2, ARHGEF9, ARHGEF15, ARX, ASAH1, ATP1A2, ATP1A3, ATP6AP2, ATP6V1A, ATRX, BRAT1, CACNA1A, CACNA1D, CACNA2D2, CACNA1E, CACNA1H, CACNB4, CASK, CDC42, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLN3, CLN8, CNPY3, CNTN2, CNTNAP2, C12orf57, CPA6, CRH, CSTB, CTSF, CYFIP2, DENND5A, DEPDC5, DHFR, D2HGDH, DNAJC5, DNM1, DNM1L, DOCK7, DYRK1A, EEF1A2, EFHC1, EPM2A, ETHE1, FGF12, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRIN2D, HCN1, HNRNPU, HUWE1, IER3IP1, ITPA, IQSEC2, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, KIF1A, KIF5C, LGI1, LIAS, MBD5, MCCC1, MDH2, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTHFR, MTOR, NACC1, NECAP1, NEUROD2, NEXMIF, NGLY1, NHLRC1, NOL3, NPRL2, NR2F1, NRXN1, PCDH19, PHACTR1, PIK3R2, PIGA, PIGB, PIGN, PIGO, PIGP, PIGQ, PIGT, PLCB1, PLPBP, PNKP, PNPO, POLG, PPP3CA, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRRT2, PURA, QARS, RBFOX1, RBFOX3, RELN, RNASEH2B, ROGDI, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERAC1, SERPINI1, SIK1, SLC1A2, SLC12A5, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SNAP25, SNIP1, SNX27, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STX1B, STXBP1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TBCD, TBC1D24, TBCE, TBCK, TCF4, TPP1, TRAK1, TSC1, TSC2, TTC19, TUBB3, UBA5, UBE3A, WASF1, WDR45, WWOX, ZDHHC9, ZEB2

List of diseases covered by the panel


Non-coding variants: List of non-coding variants covered by the panel

Lab method: NGS panel with CNV analysis

TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: CHRNA4, CHRNB2, EPM2A, KCNQ1, KCNQ3, NHLRC1, PCDH19, SCN1A, SLC2A1, STXBP1

Lab method: MLPA

TAT: 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2,5 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Testing of at risk family members for known mutations
3. Prenatal diagnosis for known familial mutations
4. Genetic counseling

Epilepsy is a clinically and genetically heterogeneous group of disorders characterized by epileptic seizures and other symptoms of neurological problems. Epilepsy can be caused by strokes, brain tumors, head injuries, structural brain abnormalities, brain infections and genetic syndromes.

The epilepsies can be classified into three classes: genetic generalized, focal and encephalopathic epilepsies, with several specific disorders within each class. The genetic generalized epilepsy syndromes include juvenile myoclonic epilepsy and childhood absence epilepsy among others. Focal epilepsy syndromes include temporal lobe epilepsy, autosomal dominant nocturnal frontal lobe epilepsy and autosomal dominant epilepsy with auditory features. Epileptic encephalopathies are severe, early onset conditions characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis.

Epilepsy is often a concurrent condition in individuals with intellectual disability, autism or schizophrenia.

Genetic factors are relevant in the development of epilepsy. Most genes being implicated in epilepsy are involved in dysfunction or dysregulation of ion channels.

References:

Chang BS, Lowenstein DH (2003). “Epilepsy”. N. Engl. J. Med. 349 (13): 1257–66.
Hildebrand MS et al. Recent advances in the molecular genetics of epilepsy. J Med Genet. 2013;50:271–9.
Myers CT and Mefford hC. Advancing epilepsy genetics in the genomic era. Genome Medicine2015 7:91