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Epilepsy/Seizure NGS Panel

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Epilepsy/Seizure NGS Panel

Key Information

Lab:

Molecular

TAT:

8 weeks

Price:

$3,500

CPT Code(s):

81419

Test Code:

DESP

Order Form

Epilepsy/Seizure NGS Panel

The Epilepsy/Seizure NGS Panel is a 165-gene panel intended for patients with a diagnosis of epilepsy or seizures.

ABAT, ADSL, ALDH5A1, ALDH7A1, ALG13, ANKRD11, ARFGEF2, ARHGEF9, ARID1B, ARX, ATP1A2, ATP6AP2, BRAT1, CACNA1A, CACNA1E, CACNB4, CASK, CASR, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLTC, CNTNAP2, CSTB, CTSD, CUL4B, CUX2, DCX, DDX3X, DEPDC5, DNM1, DNM1L, DOCK7, DYRK1A, EEF1A2, EHMT1, EPM2A, FGF12, FLNA, FOLR1, FOXG1, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GNAO1, GNB1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HECW2, HNRNPU, IQSEC2, IRF2BPL, KANSL1, KCNA1, KCNA2, KCNAB1, KCNB1, KCNC1, KCNH1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, KIF5C, LGI1, LIAS, MBD5, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, NALCN, NECAP1, NEDD4L, NEXMIF, NHLRC1, NPRL2, NPRL3, NRXN1, OPHN1, PACS1, PACS2, PAFAH1B1, PCDH19, PHF6, PHGDH, PIGA, PIGN, PIGO, PIGT, PLCB1, PLPBP, PNKP, PNPO, POLG, PPP2CA, PPP3CA, PPT1, PRICKLE1, PRICKLE2, PRRT2, PURA, QARS1, RELN, RHOBTB2, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SIK1, SLC13A5, SLC25A19, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SMS, SNAP25, SPATA5, SPTAN1, ST3GAL3, ST3GAL5, STX1B, STXBP1, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPP1, TSC1, TSC2, TUBB2A, UBA5, UBE3A, USP9X, WDR45, WDR62, WWOX, ZEB2

16q24.3 microdeletion syndrome, 5q14.3 microdeletion syndrome, Adenylosuccinate lyase deficiency, Alternating hemiplegia of childhood, Amelocerebrohypohidrotic syndrome, Amish infantile epilepsy syndrome, Autosomal dominant hypocalcemia, Benign familial neonatal and infantile seizures, Borjeson-Forssman-Lehmann syndrome, Christianson syndrome, Coffin-Siris syndrome, Cortical dysplasia-focal epilepsy syndrome, Dravet syndrome, Early infantile epileptic encephalopathy, EAST syndrome, Encephalopathy due to defective mitochondrial and peroxisomal fission, Episodic ataxia, Familial focal epilepsy with variable foci, Familial infantile convulsions with paroxysmal choreoathetosis, Familial or sporadic hemiplegic migraine, Frontometaphyseal dysplasia, GABA-transaminase deficiency, Generalized epilepsy with febrile seizures, Guanidinoacetate methyltransferase deficiency, Hyperekplexia-epilepsy syndrome, Idiopathic generalized epilepsy, Isolated focal cortical dysplasia type IIa, Juvenile myoclonic epilepsy, Kleefstra syndrome, Koolen-De Vries syndrome, L-Arginine:glycine amidinotransferase deficiency, Lafora disease, Lennox-Gastaut syndrome, Lipoic acid synthetase deficiency, Lissencephaly, Miller-Dieker syndrome, Mitochondrial recessive ataxia syndrome, Molybdenum cofactor deficiency, Mowat-Wilson syndrome, Neurodegeneration due to cerebral folate transport deficiency, Neuronal ceroid lipofuscinosis, Nocturnal frontal lobe epilepsy, Periventricular nodular heterotopia, Phosphoglycerate dehydrogenase deficiency, Pitt-Hopkins syndrome, Pontocerebellar hypoplasia, Presynaptic congenital myasthenic syndrome, Primary microcephaly, Progressive epilepsy-intellectual disability syndrome, Finnish type, Progressive myoclonic epilepsy, Pyridoxine-dependent epilepsy, Rett syndrome, Seckel syndrome, Succinic semialdehyde dehydrogenase deficiency, Susceptibility to malignant hyperthermia, Temple-Baraitser syndrome, Tuberous sclerosis, Unverricht-Lundborg disease, West syndrome, Wiedemann-Steiner syndrome, X-linked intellectual disability\, Cabezas type, X-linked intellectual disability\, Cantagrel type, X-linked intellectual disability\, Najm type

Clinical Information

Epilepsy is a common disorder with a significant portion of cases having some degree of genetic contribution. This includes multifactorial, polygenic, chromosomal, copy number variants, and single gene disorders. This panel provides a cost effective and comprehensive strategy to evaluate for single gene causes of seizure disorders. Syndromic and non-syndromic forms of epilepsy are included in this panel. Identifying the underlying etiology and genetic cause of epilepsy may influence or directly impact medical management. For example, some medications are contraindicated when particular gene variants are present.

Technical Information

This panel is performed by Next Generation Sequencing and covers the coding regions of the listed genes and the flanking intronic sequences. Promoter, 3′ untranslated sequences, and deep intronic sequences are also covered, but only known disease-causing variants in these regions will be reported. Variants identified on the panel are confirmed with Sanger sequencing if they do not meet certain quality thresholds. Large deletions and duplications (CNVs) affecting the genes of the panel can be detected; however, due to defined settings in the analysis software, CNVs smaller than 2-kb may not be identified (for example, some small exonic level copy number changes may not be identified). Please note that certain types of genetic alterations including trinucleotide repeat expansions, methylation abnormalities, and balanced rearrangements (e.g., inversions, reciprocal translocations) may not be detected by the current analysis.

Specimen Requirements

  • The preferred sample type is 3-4 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Blood and saliva kits are available by request.
  • Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
  • If saliva is submitted, and the extracted DNA is below quality control, then you will be contacted to submit a blood sample or the panel can be completed on an exome backbone. Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

  • The blood specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
  • Extracted DNA should be sent at room temperature via overnight delivery.
  • Saliva is stable at room temperature and can be delivered via overnight or ground shipping.

Associated Tests

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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