Test Catalog

Test Id : ESPAN

Epilepsy/Seizure Genetic Panels by Next-Generation Sequencing (NGS), Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

Establishing a diagnosis of an epilepsy or seizure disorder associated with known causal genes

 

Identifying mutations within genes known to be associated with inherited epilepsy or seizure disorders, allowing for predictive testing of at-risk family members

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

Epilepsy is a heterogeneous group of disorders that are characterized by recurrent and usually unprovoked seizures.

 

This test includes the option of performing 1 of several epilepsy/seizure-related panels. Options include the following:

-Early Epileptic Encephalopathy Panel (90 genes)

-Encephalopathy with Seizures Panel (129 genes)

-Epilepsy Expanded Panel (192 genes)

-Epilepsy with Migraine Panel (7 genes)

-Febrile Seizure Panel (9 genes)

-Focal Epilepsy Panel (16 genes)

-Infantile Spasms Panel (17 genes)

-Neuronal Migration Disorders Panel (29 genes)

-Progressive Myoclonic Epilepsy Panel (27 genes)

-Tuberous Sclerosis Panel (2 Genes)

-Custom Gene Panel (https://orders.mayocliniclabs.com/en/tools/gene_panels/)

-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1

See Frequently Asked Questions: Custom Gene Ordering Tool in Special Instructions.

 

See Targeted Genes and Methodology Details for Epilepsy/Seizure Genetic Panels in Special Instructions for details regarding the targeted genes for each test.

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
_G116 Epilepsy Expanded Panel No, Bill Only No
_G117 Encephalopathy with Seizures Panel No, Bill Only No
_G118 Early Epileptic Encephalopathy Panel No, Bill Only No
_G119 Neuronal Migration Disorders Panel No, Bill Only No
_G120 Progressive Myoclonic Epilepsy Panel No, Bill Only No
_G121 Infantile Spasms Panel No, Bill Only No
_G122 Focal Epilepsy Panel No, Bill Only No
_G123 Febrile Seizure Panel No, Bill Only No
_G124 Epilepsy with Migraine Panel No, Bill Only No
_G131 Tuberous Sclerosis Panel No, Bill Only No
G145 Hereditary Custom Gene Panel Tier 1 No, Bill Only No
G146 Hereditary Custom Gene Panel Tier 2 No, Bill Only No
G147 Hereditary Custom Gene Panel Tier 3 No, Bill Only No
G148 Hereditary Custom Gene Panel Tier 4 No, Bill Only No
G149 Hereditary Custom Gene Panel Tier 5 No, Bill Only No

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).

 

See Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instructions.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR)/qPCR/Sanger Sequencing/or Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Epilepsy/Seizure Genetic Panels

Aliases
Lists additional common names for a test, as an aid in searching

Early epileptic encephalopathy

Encephalopathies

Infantile spasms

West syndrome

Infantile spasms single-spasm variant

ISSV

Hypsarrhythmia without infantile spasms

HWIS

Infantile spasms without hypsarrhythmia

ISW

Febrile seizures

Genetic epilepsy with febrile seizures plus

GEFS+

Dravet syndrome

Progressive myoclonic epilepsy

Unverricht-Lundborg disease

Lafora disease

Neuronal ceroid lipofuscinoses

Sialidoses

Neuronal migration disorders

Lissencephaly

Heterotopia

Polymicrogyria

Schizencephaly

Focal cortical dysgenesis

Focal epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy

ADNFLE

Familial mesial temporal lobe epilepsy

Autosomal dominant lateral temporal lobe epilepsy

ADLTE

Autosomal dominant partial epilepsy with variable loci

Epilepsy with migraine

Encephalopathy with seizures

Generalized epilepsy

Next Gen Sequencing

ESPAN

Custom Gene Ordering

Custom Gene Panel

Custom NGS Panel

Custom ordering

Custom Panels

Custom Sequencing Panels

Custom sequencing test

Customizable Epilepsy Panels

Customizable Hereditary Panels

Customizable Panels

A la carte

TSC

TSC1/TSC2

Tuberous Sclerosis Complex

ABAT

ACY1

ADGRG1

ADSL

AFG3L2

ALDH7A1

ALG13

AMT

ARFGEF2

ARHGEF9

ARX

ASAH1

ATP13A2

ATP1A2

ATP6AP2

ATRX

BCKDK

BOLA3

CACNA1A

CACNA2D2

CASK

CDKL5

CERS1

CHD2

CHRNA2

CHRNA4

CHRNB2

CLCN4

CLN3

CLN5

CLN6

CLN8

CNTNAP2

COG7

COG8

COL18A1

COL4A1

COQ9

CPA6

CPT2

CRH

CSTB

CTSD

CTSF

CUL4B

D2HGDH

DCX

DEPDC5

DNAJC5

DNM1

DOCK7

DYRK1A

EEF1A2

EPM2A

FARS2

FASTKD2

FGD1

FGFR3

FH

FKRP

FKTN

FLNA

FOLR1

FOXG1

GABRA1

GABRB2

GABRB3

GABRD

GABRG2

GAMT

GATM

GCK

GFM1

GLUL

GNAO1

GOSR2

GPC3

GRIA3

GRIN1

GRIN2A

GRIN2B

GRN

HCFC1

HCN1

HSD17B10

IBA57

IER3IP1

KANSL1

KCNB1

KCNC1

KCNH5

KCNJ10

KCNQ2

KCNQ3

KCNT1

KCTD7

KDM5C

LAMA2

LARGE1

LGI1

MBD5

MECP2

MEF2C

MFSD8

MOCS1

MOCS2

MRPL12

NECAP1

NEU1

NHLRC1

NOTCH3

NPRL2

NPRL3

NR2F1

NRXN1

OCLN

OFD1

OPHN1

PAFAH1B1

PAK3

PCDH19

PDSS2

PEX7

PHF6

PHGDH

PIGA

PIGO

PIGV

PLCB1

PLP1

PNKP

PNPO

POLG

POMGNT1

POMT1

POMT2

PPT1

PQBP1

PRICKLE1

PRRT2

PURA

QARS

RAB39B

RAB3GAP1

RELN

RMND1

ROGDI

SCARB2

SCN1A

SCN1B

SCN2A

SCN8A

SCN9A

SERPINI1

SETBP1

SIK1

SLC13A5

SLC19A3

SLC25A22

SLC2A1

SLC35A2

SLC6A8

SLC9A6

SMC1A

SMS

SNAP29

SPR

SPTAN1

SRPX2

ST3GAL3

ST3GAL5

STX1B

STXBP1

SYNGAP1

SYP

SZT2

TBC1D24

TCF4

TPP1

TSC1

TSC2

TUBA1A

TUBA8

TUBB2B

TWNK

UBE3A

VARS2

VLDLR

WDR45

WDR62

WWOX

ZEB2

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).

 

See Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instructions.

Specimen Type
Describes the specimen type validated for testing

Varies

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Necessary Information

The specific epilepsy/seizure panel requested must be provided in order to perform this test.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Specimen Type: Whole blood

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.

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 specimen in original tube.

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

1. Molecular Genetics: Neurology Patient Information in Special Instructions

2. Targeted Genes and Methodology Details for Epilepsy/Seizure Genetic Panels in Special Instructions

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

See Specimen Required.

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
Frozen
Refrigerated

Useful For
Suggests clinical disorders or settings where the test may be helpful

Establishing a diagnosis of an epilepsy or seizure disorder associated with known causal genes

 

Identifying mutations within genes known to be associated with inherited epilepsy or seizure disorders, allowing for predictive testing of at-risk family members

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

Epilepsy is a heterogeneous group of disorders that are characterized by recurrent and usually unprovoked seizures.

 

This test includes the option of performing 1 of several epilepsy/seizure-related panels. Options include the following:

-Early Epileptic Encephalopathy Panel (90 genes)

-Encephalopathy with Seizures Panel (129 genes)

-Epilepsy Expanded Panel (192 genes)

-Epilepsy with Migraine Panel (7 genes)

-Febrile Seizure Panel (9 genes)

-Focal Epilepsy Panel (16 genes)

-Infantile Spasms Panel (17 genes)

-Neuronal Migration Disorders Panel (29 genes)

-Progressive Myoclonic Epilepsy Panel (27 genes)

-Tuberous Sclerosis Panel (2 Genes)

-Custom Gene Panel (https://orders.mayocliniclabs.com/en/tools/gene_panels/)

-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1

See Frequently Asked Questions: Custom Gene Ordering Tool in Special Instructions.

 

See Targeted Genes and Methodology Details for Epilepsy/Seizure Genetic Panels in Special Instructions for details regarding the targeted genes for each test.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).

 

See Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instructions.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Epilepsy is a heterogeneous group of disorders that are characterized by recurrent and usually unprovoked seizures. A comprehensive diagnostic genetic test is useful to help determine a molecular etiology for the heterogeneous epilepsy and seizure disorders and, therefore, establish long-term prognosis.

 

Early Epileptic Encephalopathy Panel:

Epileptic encephalopathies are neurodevelopmental disorders caused by recurrent clinical seizures usually seen during the early infantile period. Early epileptic encephalopathy is associated with impaired cognitive, sensory, and motor development. The most common causes of early epileptic encephalopathy include structural brain defects and inborn errors of metabolism, but genetic factors have been found to have an increasing role in cases without structural or metabolic causes.

 

Infantile Spasms Panel:

Infancy is the highest risk period for epileptic seizures, and infantile spasms are the most frequent type of epilepsy in the first year of life. Infantile spasms are characterized by spasms that occur in clusters and usually have an onset before 2 years of age. A spasm involves a brief contraction followed by less intense, but sustained, tonic contraction lasting up to 1 to 2 seconds. Additionally, infantile spasms are associated with a distinguishing electroencephalogram (EEG) pattern called hypsarrhythmia that has random, high-voltage spikes and slow waves. However, hypsarrhythmia is not seen in all cases of infantile spasms.

 

Infantile spasms seen in addition to hypsarrhythmia and delayed brain development or regression are referred to as West syndrome. Other subgroups of infantile spasms include infantile spasms single-spasm variant (ISSV), in which spasms occur singly rather than in clusters; hypsarrhythmia without infantile spasms (HWIS), when hypsarrhythmia occurs without any evidence of spams; and infantile spasms without hypsarrhythmia (ISW), when clinical spasms occur without hypsarrhythmia.

 

Febrile Seizure Panel:

Febrile seizures are the most common convulsive event in childhood, usually occurring between 3 months and 5 years of age, and can be the presenting symptom of many clinical epilepsy syndromes. They are associated with fever, but without evidence of intracranial infection or defined cause. The most significant risk factors for recurrence of febrile seizures are family history of febrile seizures, a relatively low grade of fever, a shorter duration of fever before seizure, and onset of first seizure before 18 months of age.

 

Most children with febrile seizures do not develop epilepsy. However, the risk to develop unprovoked seizures after a febrile seizure is 2 to 3 times the risk of epilepsy in the general population. The most significant risk factors for the development of epilepsy include developmental delay or an abnormal neurological examination before the onset of the febrile seizure, a history of complex febrile seizures, and a first-degree relative with epilepsy. The most common epilepsy syndromes that present with febrile seizures include genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome. GEFS+ is an epilepsy syndrome in which febrile seizures continue beyond 6 years of age. Dravet syndrome is a neurodevelopment disorder associated with severe myoclonic epilepsy of infancy and often begins with prolonged seizures triggered by fever.

 

Progressive Myoclonic Epilepsy Panel:

Progressive myoclonic epilepsies are a genetically heterogeneous group of disorders that are characterized by worsening action myoclonus, epileptic seizures, and a progressive neurologic decline. The most common forms of progressive myoclonic epilepsies include Unverricht-Lundborg disease, Lafora disease, neuronal ceroid lipofuscinoses, and sialidoses.

 

The first symptom of Unverricht-Lundborg disease is typically involuntary myoclonic jerks and it presents around 6 to 15 years of age. Lafora disease presents around 12 to 17 years of age, with many individuals having isolated febrile or nonfebrile convulsions in infancy or early childhood. Individuals with a neuronal ceroid lipofuscinosis have progressive decline, an evolving cognitive and motor disorder, and seizures.

 

Neuronal Migration Disorders Panel:

Neuronal migration disorders are caused by abnormal migration of neurons in the developing brain and nervous system. Neuronal migration disorders include lissencephaly, heterotopia, polymicrogyria, schizencephaly, and focal cortical dysgenesis.

 

Lissencephaly, which means smooth brain, is characterized by the lack of normal cortical folds or gyria. Severity of the disorder ranges from absence (agyria) to reduction (pachygyria) of normal gyral patterns. Classical lissencephaly, also known as type 1 lissencephaly, consists of early developmental delay, mental retardation, and spastic quadriparesis. Seizures are present in almost all children with early onset, in addition to a high prevalence of infantile spasms. In addition, seizures typically develop with classical lissencephaly in the first 6 to 12 months of life.

 

Neuronal heterotopia is characterized by a cluster of disorganized neurons in abnormal locations and is divided into periventricular nodule heterotopia and subcortical band heterotopia. Periventricular nodular heterotopia has a wide spectrum of clinical features, which can include developmental delay, microcephaly, and infantile spasms. However, epilepsy is the main feature. Subcortical band heterotopia has a spectrum of cognitive function ranging from normal to severe cognitive impairment, and features intractable epilepsy.

 

Polymicrogyria is characterized by an irregular brain surface with an excessive number of small and partly fused gyria separated by shallow sulci. Children can present with developmental delay and mild spastic quadriparesis, and almost all affected children have a high risk of developing epilepsy.

 

Schizencephaly is a disorder of cortical organization and can be divided into closed or fused lips, also known as type I, or open lips, also known as type II. Individuals with unilateral closed-lip schizencephaly generally have mild hemiparesis and seizures, but no impairment of normal developmental milestones. Individuals with open-lip schizencephaly have mild-to-moderate developmental delay and hemiparesis. Individuals with bilateral clefts typically have more severe cognitive impairment and severe motor abnormalities.

 

Focal cortical dysgenesis is a congenital abnormality of cortical development that is generally associated with intractable focal epilepsy starting in adolescence. However, seizures associated with focal cortical dysgenesis may arise at any age.

 

Focal Epilepsy Panel:

Focal epilepsy is a neurological disorder characterized by recurrent seizures with abnormal electrographic activity in localized brain areas. Focal epilepsy can develop at any point during life. However, genetic causes of focal epilepsy are often associated with an earlier onset. They are comprised of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), familial mesial temporal lobe epilepsy, autosomal dominant lateral temporal lobe epilepsy (ADLTE), and autosomal dominant partial epilepsy with variable loci.

 

ADNFLE is characterized by frontal lobe seizures occurring during sleep, often in clusters. The seizures are short in duration, fundamentally motor-based, and transmitted in an autosomal dominant pattern. Familial mesial temporal lobe epilepsy has an adolescent or adult onset that consists of seizures with symptoms that are psychic, autonomic, or sensorial. ADLTE is characterized by partial visual or auditory seizures that manifest in the first 2 decades of life and is transmitted in an autosomal dominant pattern. Autosomal dominant partial epilepsy with variable loci is characterized by focal seizures arising from different brain regions in different members of the same family. Most individuals have seizures of frontal or temporal origin and the age of onset is variable.

 

Epilepsy with Migraine Panel:

Epilepsy, which is multiple unprovoked seizures, is diverse with heterogenous genetic causes. Additionally, it is one of the most common neurological diseases globally. People with epilepsy are more likely to be diagnosed with migraine than are people in the general population. Epilepsy and migraines share clinical features, and migraines are one of the most common neurologic comorbidities in individuals with epilepsy. The association between migraine and epilepsy is bilateral with either proceeding or following the other, or they may occur at the same time.

 

Encephalopathy with Seizures Panel:

Epileptic encephalopathies are neurodevelopmental disorders caused by recurrent clinical seizures usually seen during the early infantile period. However, this panel is targeted towards those cases of encephalopathy with an onset outside of the neonatal and infantile periods.

 

Tuberous Sclerosis Panel:

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous multisystem disorder associated with mutations in the TSC1 and TSC2 genes. TSC involves abnormalities of the skin, brain, kidneys, heart, and lungs. Central nervous system tumors are the leading cause of morbidity and mortality. Brain abnormalities can include infantile spasm and hypsarrhythmia syndrome.

 

Custom Gene Panel:

Custom gene ordering allows the creation of a custom gene list to tailor testing to a patient's exact need. After selection of a specific disease state, the custom gene panel can be modified to add or remove genes. Through this option single gene testing can be performed.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

All detected alterations are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Clinical Correlations:

Some individuals who are a carrier or have a diagnosis of an epilepsy or seizure disorder may have a mutation that is not identified by the methods performed (eg, promoter mutations or deep intronic mutations). The absence of a mutation, therefore, does not eliminate the possibility of a hereditary epilepsy or seizure disorder. For predictive testing of asymptomatic individuals, it is important to first document the presence of a gene mutation in an affected family member.

 

Test results should be interpreted in context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

 

Technical Limitations:

In some cases, DNA variants of undetermined significance may be identified.

 

Due to the limitations of next-generation sequencing, small deletions and insertions may not be detected by this test. If a diagnosis of one of the syndromes on this panel is still suspected, contact a molecular genetic counselor in the Genomics Laboratory at 800-533-1710 for more information regarding follow-up testing options.

 

Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

 

In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing.

 

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.

 

Evaluation Tools:

Multiple in-silico evaluation tools were used to assist in the interpretation of these results. These tools are updated regularly; therefore, changes to these algorithms may result in different predictions for a given alteration. Additionally, the predictability of these tools for the determination of pathogenicity is currently not validated.

 

Alterations classified as benign (common polymorphisms) and known pseudodeficiency alleles are not reported but are available upon request. Known pseudodeficiency alleles may lead to false-positive biochemical results, do not cause disease, and will only be reported when identified with a reportable alteration in the same gene.

 

Reclassification Of Variants-Policy:

All detected alterations are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance. At this time, it is not standard practice for the laboratory to systematically review "likely pathogenic" alterations or "variants of uncertain significance" that are detected and reported. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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;17:405-423

2. Mameniskiene R, Karmonaite I, Zagorskis R: The burden of headache in people with epilepsy. Seizure 2016;41:120-126

3. Auvin S, Cilio MR, Vezzani A: Current understanding and neurobiology of epileptic encephalopathies. Neurobiol Dis 2016;92(Pt A):72-89

4. Kalviainen R: Progressive Myoclonus Epilepsies. Semin Neurol 2015;35(3):293-299

5. Chung S: Febrile seizures. Korean J Pediatr 2014;57(9):384-395

6. Berg AT, Millichap JJ: The 2010 revised classification of seizures and epilepsy. Continuum (Minneap Minn) 2013;19(3 Epilepsy):571-597

7. Poza JJ: The genetics of focal epilepsies. Handb Clin Neurol 2012;107:153-161

8. LaRoche SM: Seizures and encephalopathy. Semin Neurol 2011;31(2):194-201

9. Verrotti A, Spalice A, Ursitti F, et al: New trends in neuronal migration disorders. Eur J Paediatr Neurol 2010;14(1):1-12

10. Shields WD: Infantile spasms: little seizures, BIG consequences. Epilepsy Curr 2006;6(3):63-69

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Next-generation sequencing (NGS) and/or Sanger sequencing is performed to test for the presence of a mutation and for the presence of large deletions and duplications in the genes analyzed. See Targeted Genes and Methodology Details for Epilepsy/Seizure Genetic Panels in Special Instructions for details regarding the targeted genes analyzed for each test.

 

There may be regions of genes that cannot be effectively amplified for sequencing or large deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high GC-rich content, and repetitive sequences.

 

Multiplex ligation-dependent probe amplification (MLPA), PCR, and/or Sanger sequencing is used to confirm alterations detected by NGS when appropriate.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Varies

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

10 to 12 weeks

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood: 2 weeks (if available) Extracted DNA: Indefinitely

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81185 (if appropriate)

81189 (if appropriate)

81302 (if appropriate)

81403 (if appropriate)

81404 (if appropriate)

81405 (if appropriate)

81406 (if appropriate)

81407 (if appropriate)

81408 (if appropriate)

81443 (if appropriate)

81479 (if appropriate)

LOINC® Information

Test Id Test Order Name Order LOINC Value
ESPAN Epilepsy/Seizure Genetic Panels In Process
Result Id Test Result Name Result LOINC Value
Result LOINC Value Tooltip
MG116 Client Provided Sub-Panel 19145-2
MG118 Gene List ID or NA 48018-6
603348 Result Summary 50397-9
603350 Result 82939-0
603351 Interpretation 69047-9
603352 Additional Information 48767-8
603353 Method 85069-3
603357 Disclaimer 62364-5
603354 Specimen 31208-2
603355 Source 31208-2
603356 Released By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports