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HelpTest ID: EPPAN Comprehensive Epilepsy With or Without Encephalopathy Gene Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel is available. For more information see CGPH/ Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known variant testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Neurology Patient Information
3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.
Useful For
Establishing a diagnosis of an epilepsy or seizure disorder associated with known causal genes
Identifying disease-causing variants within genes known to be associated with inherited epilepsy or seizure disorders, allowing for predictive testing of at-risk family members
Impacting patient treatment and management through the identification of a specific underlying etiology for epilepsy (eg, directing appropriate use of antiepileptic drugs and other treatment modalities)
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 319 genes associated with epilepsy and a polymerase chain reaction-based assay to detect CSTB dodecamer repeat expansions:
ABAT, ACO2, ACY1, ADARB1, ADGRG1, ADSL, AFG3L2, AIFM1, AKT2, ALDH3A2, ALDH5A1, ALDH7A1, ALG13, AMT, AP2M1, APOPT1 (COA8), ARFGEF2, ARHGEF9, ARX, ASAH1, ASNS, ATN1, ATP1A2, ATP1A3, ATRX, BCKDK, BCS1L, BOLA3, BRAT1, C12orf57, CACNA1A, CACNA1E, CACNA2D2, CAD, CARS2, CASK, CCM2, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COA8 (APOPT1), COG7, COG8, COL18A1, COL4A1, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, CPT2, CSF1R, CSTB, CTSD, CTSF, CUL4B, D2HGDH, DCX, DDC, DDX3X, DEPDC5, DHFR, DIAPH1, DLD, DMXL2, DNAJC5, DNM1, DNM1L, DOCK7, DYRK1A, EARS2, EEF1A2, EHMT1, EIF2AK2, EPM2A, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GCK, GFM1, GLDC, GLRA1, GLUL, GNAO1, GOSR2, GPAA1, GPC3, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GYS2, HCFC1, HCN1, HIBCH, HNRNPU, HSD17B10, IARS2, IBA57, IDH2, IER3IP1, IQSEC2, ITPA, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KDM6A, KRIT1, L2HGDH, LAMA2, LARGE1, LGI1, LIAS, LRPPRC, MBD5, MECP2, MEF2C, MFSD8, MICU1, MOCS1, MOCS2, MTFMT, MTO1, MTOR, NALCN, NDUFA1, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEXMIF, NGLY1, NHLRC1, NOTCH3, NPRL2, NPRL3, NR2F1, NR4A2, NRROS, NRXN1, OCLN, OFD1, OPHN1, OTUD6B, P4HTM, PACS1, PACS2, PAFAH1B1, PAK3, PCDH12, PCDH19, PDCD10, PDHA1, PDHB, PDHX, PDP1, PDSS2, PEX7, PHF6, PHGDH, PIGA, PIGG, PIGK, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PLCB1, PLP1, PLPBP, PNKP, PNPLA8, PNPO, POLG, POMGNT1, POMT1, POMT2, PPP2R5D, PPT1, PRRT2, PURA, QARS1, RAB39B, RAB3GAP1, RALA, RALGAPA1, RANBP2, RARS2, RELN, RMND1, ROGDI, RRM2B, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO2, SDHAF1, SERAC1, SERPINI1, SETBP1, SETD2, SIK1, SLC12A5, SLC13A5, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMS, SNAP25, SNAP29, SNX27, SPATA5, SPR, SPTAN1, ST3GAL3, ST3GAL5, STRADA, STX1B, STXBP1, SUCLA2, SUOX, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TBC1D24, TBL1XR1, TCF4, TPK1, TPP1, TSC1, TSC2, TSFM, TUBA1A, TUBA8, TUBB2B, TWNK, UBE3A, UGP2, USP7, VARS2, VLDLR, WDR26, WDR37, WDR45, WDR62, WWOX, YWHAG, ZDHHC9, and ZEB2. See Targeted Genes and Methodology Details for Comprehensive Epilepsy With or Without Encephalopathy Gene Panel and Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, recurrence risk assessment, and genetic counseling for hereditary forms of epilepsy.
Additional first-tier testing may be considered/recommended. For more information see Ordering Guidance and Testing Algorithm sections.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Comprehensive Epilepsy Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Epilepsy is a chronic neurological disorder characterized by recurrent and unprovoked seizures. Epilepsy is common, impacting just over 1% of the population. The underlying cause of epilepsy is multifactorial, with both genetic and nongenetic etiologies.
Inherited forms of epilepsy may present with varying seizure types, age of onset, comorbidities and underlying molecular causes, including channelopathies, metabolic conditions, and disorders associated with structural brain anomalies. Different hereditary epilepsies may follow autosomal dominant, autosomal recessive, or X-linked patterns of inheritance, or may occur as a result of a de novo pathogenic variant; therefore, identification of a specific molecular cause is essential to assess recurrence risk and impact to at risk family members.
Clinical diagnoses can be challenging as pathogenic variants in different genes may be associated with strikingly similar clinical presentations. Comprehensive diagnostic genetic testing is useful to determine the molecular etiology which in turn can assist in establishing long-term prognosis and identifying appropriate therapeutic and management strategies.
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Reference values for CSTB repeat expansion assay
Normal: <5 dodecamer repeats
Repeat Size of Uncertain Significance: 5-29 dodecamer repeats
Full Penetrance Expansion: >29 dodecamer repeats
Clinical Reference
1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-42.
2. Martinez L, Lai Y, Holder J, et al: Genetics in epilepsy. Neurol Clin. 2021 Aug; 39(3):743-777
3. Helbig I, Ellis C: Personalized medicine in genetic epilepsies-possibilities, challenges, and new frontiers. Neuropharmacology. 2020 Aug 1;172:107970
Day(s) Performed
Varies
Report Available
28 to 42 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81419
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| EPPAN | Comprehensive Epilepsy Gene Panel | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 616551 | Test Description | 62364-5 |
| 616552 | Specimen | 31208-2 |
| 616553 | Source | 31208-2 |
| 616554 | Result Summary | 50397-9 |
| 616555 | Result | 82939-0 |
| 616556 | Interpretation | 69047-9 |
| 616557 | Resources | 99622-3 |
| 616558 | Additional Information | 48767-8 |
| 616559 | Method | 85069-3 |
| 616560 | Genes Analyzed | 82939-0 |
| 616561 | Disclaimer | 62364-5 |
| 616562 | Released By | 18771-6 |
Testing Algorithm
For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
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