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Neonatal Epilepsy NGS Panel
Panel Description
Diseases Targeted:
Encephalopathy
Epilepsy
Seizures
Spasms
Overview:
Infants who experience a seizure during the first two years of life may be affected by neonatal epilepsy, the diagnosis given when an individual has two or more unprovoked seizures. Neonatal epilepsy is a heterogenous disorder and Fulgent’s neonatal epilepsy panel includes genes associated with isolated neurologic phenotypes, including infantile spasms (West syndrome), as well as multisystemic conditions, inborn errors of metabolism, and structural brain anomalies that may present with seizures. Many of these genes are included in the Actionable Epilepsy Panel as early diagnosis and treatment may be key to preventing additional medical complications.Who is this test for?
This panel is designed for patients under two years of age who have experienced seizures, infantile spasms, encephalopathy, or recurrent febrile seizures.What are the potential benefits for my patient?
Individuals identified with a predisposition for seizures may receive targeted care to better manage their risks.- Establish or confirm the appropriate diagnosis
- Inform family members about their own risk factors
- Identify risks for additional related symptoms
- Result in more personalized treatment and symptom management
- Provide information about clinical course of disease
- Connect patients to relevant resources and support
- Provide options for family planning
Test Description
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Order Options:
Turnaround Time:
3-5 weeks
Cost:
Call for details
Genes:
ABAT, ABCC8, ACY1, ADAR, ADSL, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, ARG1, ARHGEF9, ARL13B, ARSA, ARSB, ARX, ASAH1, ASNS, ASPA, ATIC, ATP1A2, ATP6AP2, ATP7A, ATRX, AUH, B4GALT1, BCKDK, BCS1L, BOLA3, BRAF, BRAT1, BTD, BUB1B, C12orf57, CACNA1A, CACNA1H, CASK, CASR, CC2D2A, CCDC88C, CDKL5, CENPJ, CEP290, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN8, CNTNAP2, COG7, COG8, COL4A1, COQ2, COQ8A, COQ9, COX10, COX15, CPA6, CPT2, CTSD, CYFIP2, DCX, DEPDC5, DHCR7, DHFR, DLD, DNM1, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DYRK1A, EEF1A2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, FARS2, FGFR3, FH, FOXG1, FUCA1, GABRA1, GABRB3, GABRD, GABRG2, GALC, GAMT, GATM, GCDH, GCSH, GFAP, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUD1, GNAO1, GOSR2, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, HCN1, HECW2, HEXA, HEXB, HNRNPU, HRAS, HSD17B10, IDS, IQSEC2, IRF2BPL, KANSL1, KCNA1, KCNA2, KCNB1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KMT2D, L2HGDH, LAMA2, LIAS, LRPPRC, MAP2K1, MBD5, MDH2, MECP2, MED12, MED17, MEF2C, MFSD8, MGAT2, MLC1, MOCS1, MOCS2, MOGS, MPDU1, MTOR, NDE1, NDUFA1, NDUFA2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEU1, NEXMIF, NF1, NGLY1, NPC1, NPC2, NRXN1, NSD1, OFD1, OPHN1, PAFAH1B1, PC, PCDH19, PDHA1, PDSS2, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PHF6, PIGA, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PLPBP, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPP3CA, PPT1, PRICKLE1, PRODH, PRRT2, PSAP, PURA, QARS, QDPR, RARS2, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO2, SDHA, SETBP1, SHH, SIK1, SLC12A5, SLC13A5, SLC17A5, SLC19A3, SLC25A12, SLC25A15, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMS, SNAP25, SPTAN1, ST3GAL5, STX1B, STXBP1, SUMF1, SUOX, SURF1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TBX1, TCF4, TMEM70, TPP1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2A, TUBB2B, TWNK, UBE2A, UBE3A, UNC80, WWOX, ZEB2
( 281 genes )
Coverage:
96% at 20x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Test Limitations:
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.
Gene Specifics:
| Gene | Notes |
|---|---|
| MECP2 | Currently available technologies (NGS and qPCR) are not amenable to detection of single exon deletions/duplications of exon 1 in the MECP2 gene. |
CPT Codes:
| CPT Code | 81407, 81408, 81479 |