Epileptic Encephalopathy Panel
General Information
- Lab Name
- Epileptic Encephalopathy Panel
- Lab Code
- EPIPX
- Epic Name
- Epileptic Encephalopathy Panel
- Description
Epileptic Encephalopathy Panel is useful for the evaluation of patients with a suspected hereditary epilepsy syndrome. The panel (version 2) uses next-generation sequencing to detect most mutations in ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CYFIP1, DEPDC5, DNM1, EEF1A2, FOXG1, GABRA1, GABRB1, GABRB3, GABRG2, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNH1, KCNH5, KCNQ2, KCNQ3, KCNT1, LGI1, MBD5, MECP2, MEF2C, MTOR, NDE1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PTEN, PURA, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC1A2, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SPTAN1, STX1B, STXBP1, SYN1, SYNGAP1, TBC1D24, TCF4, TSC1, TSC2, UBE3A, WDR45, WWOX, and ZEB2. The assay completely sequences all exons of these genes AND detects large deletions, duplications and mosaicism. For patients with suspected megalencephaly or overgrowth syndrome, see Megalencephaly Panel [MEGPX].
Gene Disease Reference (PMID) ALDH5A1 Succinic semialdehyde dehydrogenase deficiency 20301374 ALDH7A1 Pyridoxine-Dependent Epilepsy 20301659 ALG13 Epileptic encephalopthy, girls 23934111 ARHGEF9 X linked intellectual disability and hyperekplexia, Borjeson-Frossman-Lehmann syndrome 21633362 ARX Epilepsy, infantile spasms, Lennox-Gastaut syndrome, Lissencephaly, agenesis of the corpus callosum 14722918 CACNA1A Epileptic encephalopathy, hemiplegic migraine 11342703 CDKL5 Severe early onset epileptic encephalopathy - usually girls, boys even more severely affected (X-linked) 12736870 CHD2 CHD2-related neurodevelopmental disorders, early onset epileptic encephalopathy, photosensitive epilepsy, eyelid myoclonus 26677509,23708187 CHRNA2 ADNFLE, focal epilepsy 20301348 CHRNA4 ADNFLE, focal epilepsy 20301348 CHRNA7 15q13.3 recurrent microdeletion syndrome, risk factor for idiopathic generalized epilepsy and neurodevelopmental disorders 21290787,20502679 CHRNB2 ADNFLE, focal epilepsy 20301348 CYFIP1 15q11.2 recurrent microdeletion syndrome, risk factor for idiopathic generalized epilepsy and neurodevelopmental disorders 19843651,20502679 DEPDC5 Focal epilepsy with or without focal cortical dysplasia; familal focal epilepsy with variable foci 23542701,23542697 DNM1 Epileptic encephalopathy 25262651 EEF1A2 Epileptic encephalopathy, early myoclonic epilepsy 23647072,24697219,26682508 FOXG1 Congenital variant Rett syndrome 24836831 GABRA1 Dravet, Ohtahara, West syndrome; generalized epilepsy 24623842,26918889 GABRB1 Epileptic encephalopathy GABRB3 Epileptic encephalopathy 23934111,26645412 GABRG2 Epileptic encephalopathy, Dravet-like 11326275 GNAO1 Epileptic encephalopathy 23993195 GRIN1 Early infantile epileptic encephalopathy 25864721,26933583 GRIN2A Epilepsy aphasia syndromes 23933818,23933819,23933820 GRIN2B Epileptic encephalopathy, infantile spasms, autism 24272827 HCN1 Epileptic encephalopathy, Dravet-like 24747641 HNRNPU Early infantile epileptic encephalopathy 23934111 IQSEC2 Non-syndromic X linked intellectual disability, epileptic encephelopathy, variant Rett syndrome 20473311,23934111,23674175 KANSL1 Koolen-de Vries (17q21 deletion) syndrome 22544363,22544367 KCNA2 Epileptic encephalopathy; myoclonic epilepsy with ataxia 25751627 KCNB1 Epileptic encephalopathy 25164438 KCNH1 Temple-Baraitser syndrome 25420144 KCNH5 Epilepsy aphasia syndromes; epileptic encephalopathy 23647072 KCNQ2 Benign familial infantile seizures; epileptic encephalopathy 9425895,20437616 KCNQ3 Benign familial infantile seizures 9425900 KCNT1 Epilepsy with migrating focal seizures in infancy (EMFSI), epileptic encephalopathy, autosomal dominant nocturnal frontal lobe epilepsy 23086396,23086397,26122718,26140313 LGI1 Autosomal dominant partial epilepsy with auditory features (ADPEAF) 20301709 MBD5 Severe ID + epilepsy, most are deletions 23587880 MECP2 Rett syndrome 20301670 MEF2C Infatile spasms/encephalopathy 23389741 MTOR Megalencephaly, hemimegalencephaly, focal cortical dysplasia 25799227 NDE1 Lissencephaly with microcephaly (AR), plus deletion a risk factor for generalized epilepsy 21529751 PCDH19 Epilepsy in females with mental retardation (EFMR), now called girls' clustering epilepsy 18469813,19214208 PIGA Early infantile epileptic encephalopathy, ferro-cerebro-cutaneous syndrome 26993267,24259288,24706016 PLCB1 Epilepsy with migrating focal seizures in infancy (EMFSI); epileptic encephalopathy; AR inheritance, deletions reported 22690784,26818157 PNKP Ataxia with Oculomotor Apraxia 4 / syndrome of microcephaly, seizures, and developmental delay / progressive cerebellar atrophy and polyneuropathy 25728773,23224214,20118933 PNPO PNPO deficieny, neonatal epileptic encephalopathy 24645144 POLG POLG-related disorders: mitochondrial DNA depletion syndromes, Alpers-Huttenlocher, progressive external ophthalmoplegia, Myoclonic epilepsy myopathy sensory ataxia (MEMSA) 20301791 PTEN Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS) PTEN related hamartoma syndrome, autism, focal cortical dysplasia 20301661 PURA Epileptic encephalopathy 25342064,25439098 SCN1A Dravet syndrome, GEFS+ 20301494 SCN1B Early infantile epileptic encephalopathy 9697698 SCN2A Epileptic encephalopathy 11738931 SCN8A Epileptic encephalopathy 25568300,22365152 SIK1 Early onset epilepsy 25839329 SLC13A5 Autosomal recessive early onset epilepsy 24995870 SLC1A2 Epileptic encephalopathy pending SLC25A22 Early onset epileptic encephalopathy 21967765 SLC2A1 GLUT1 deficiency syndrome 20301603 SLC35A2 Early onset epilepsy 24115232 SLC6A1 Myoclonic atonic epilepsy (MAE) 25865495 SLC9A6 Christianson syndrome; X-linked Angelman-like condition 22541666,24630051 SPTAN1 Epilepsy, infantile spasms, intellectual disability 25631096 STX1B Fever-associated epilepsies; Dravet-like 25362483 STXBP1 Otahara syndrome, early infantile epileptic encephalopathy (EIEE) 26865513 SYN1 Epilepsy, autism 14985377,21441247 SYNGAP1 Epileptic encephalopathy 23708187,26989088 TBC1D24 TBC1D24 related disorders: Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures (DOORS), familial infantile myoclonic epilepsy 25719194 TCF4 Pitt Hopkins syndrome 22934316 TSC1 Tuberous Sclerosis 20301399 TSC2 Tuberous Sclerosis 20301399 UBE3A Angelman syndrome 20301323 WDR45 X linked neurodegeneration with brain iron accumulation (NBIA), static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), 23687123,23447832,23435086 WWOX Early infantile epileptic encephalopathy, autosomal recessive spinocerebellar ataxia 12 25411445,24369382 ZEB2 Mowat Wilson syndrome 20301585 For previous versions of EpiPlex™ - Epileptic Encephalopathy Panel, see Previous Versions, EPIPX.
- References
- Pritchard CC, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012, 14:357-66. 22658618
- Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-33. 20616022
- Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468
- Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet 2010, 11:31-46. 19997069
- Synonyms
- ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CYFIP1, DEPDC5, DNM1, EEF1A2, FOXG1, GABRA1, GABRB1, GABRB3, GABRG2, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNH1, KCNH5, KCNQ2, KCNQ3, KCNT1, LGI1, MBD5, MECP2, MEF2C, MTOR, NDE1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PTEN, PURA, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC1A2, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SPTAN1, STX1B, STXBP1, SYN1, SYNGAP1, TBC1D24, TCF4, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2, hereditary encephalopathy, hereditary epilepsy, hereditary seizures, next-generation sequencing
- Components
-
Code Name EPIGS Epileptic Enceph Gene Analyzed EPIRE Epileptic Enceph Result EPIIN Epileptic Enceph Interp EPICH Epileptic Enceph Clin History EPIMT Epileptic Enceph Methods EPIDI Epileptic Enceph Lab Director
Interpretation
- Method
Next-generation sequencing
- Reference Range
- See individual components
- Ref. Range Notes
No mutations detected.
- Guidelines
Ordering & Collection
- Specimen Type
- Peripheral Blood, cultured cells from skin biopsy, purified DNA from peripheral blood or cultured cells
- Collection
-
BLOOD:
- 10 mL whole blood in LAVENDER TOP EDTA tube.
- Also acceptable: YELLOW TOP ACD tube, purified DNA from peripheral blood or cultured cells.
SKIN BIOPSY:
- Collection and transport: Obtain 2-4 mm punch biopsy of skin sample under sterile conditions and place in transport media (e.g. Alpha-MEM media, RPMI). Transport media can be supplied by the lab; call 206-598-4488 to request. If transport media is not available, the following media are acceptable alternatives if shipping time will not exceed 24 hours: lactated Ringer's solution, viral transport medium, or sterile saline. DO NOT USE formaldehyde, formalin, alcohol, or 5% dextrose, or tissue culture medium buffered with bicarbonate.
CULTURED CELLS:
- (2) T23 or (1) T75 flask (minimum 1-T25 flask)*.
*Prenatal testing requires concomitant testing for maternal cell contamination (see Online Test Guide [[MCC]] for ordering and specimen requirements)
- Forms & Requisitions
Requisition Form and Ordering Instructions:
1. Fill out a Genetics Requisition Form
2. Check "Epileptic Encephalopathy Panel"
Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).
- Handling Instructions
Ship specimen at room temperature for overnight delivery.
Blood specimens can be held for up to 7 days before shipping if refrigerated.
Ship specimens to:
UW MEDICAL CENTER
LABORATORY MEDICINE - GENETICS LAB
1959 NE PACIFIC ST, ROOM NW220
SEATTLE, WA 98195-7110
- Quantity
-
requested: Entire sample
minimum: 5 mL whole blood
Processing
- Processing
Blood: Refrigerate whole blood
Unacceptable Conditions: Frozen or clotted specimens
Stability (collection to initiation of testing): Ambient: 5 days; Refrigerated: 7 days; Frozen: Unacceptable
Purified DNA: Refrigerate DNA specimens. Frozen is acceptable.
Performance
- LIS Dept Code
- Genetics (GEN)
- Performing Location(s)
-
UW-MT Genetics Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-598–0304
Lab email: genelab@uw.eduTel (EXOME only): 206-543-0459
Manager
Rebecca Gaulin, rgaulin@uw.edu
Genetic Counselors
Angela Jacobson, MS, LGC agibson@uw.edu
Sarah Paolucci, MA, MS, LGC, spaolucc@uw.edu
Jenna Huey, MS, LGC, jlhuey@uw.edu
Sandra Coe, MS,LGC, scoe20@uw.edu
Dru Leistritz, MS, LGC, dru2@uw.edu (EXOME testing only)Variant Review Scientist
Ankita Jhuraney, PhD
Faculty
Colin C. Pritchard, MD, PhD
Brian H. Shirts, MD, PhD
Christina Lockwood, PhD, DABCC
Stephen Salipante, MD, PhD
Eric Konnick, MD, MS
Niklas Krumm, MD,PhD
Vera Paulson, MD, PhD
Jillian Buchan, PhD, FACMG - Frequency
- Results within 4 weeks, once sample arrives in the laboratory.
- Available STAT?
- No
Billing & Coding
- CPT codes
- Billing Comments
For additional test/billing information, see following page: Epileptic Encephalopathy CPT codes.
For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.
Billing and Insurance Pre-Authorization
We offer insurance pre-authorization services (preauthorization is only done for providers who are external to the UW system).
Email: ngsbill@uw.edu or call 1-855-320-4869 for more information.
- LOINC
- 51966-0