Sign in →

Test ID ESPAN Epilepsy/Seizure Genetic Panels by Next-Generation Sequencing (NGS), 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

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.


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.


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.

Useful For

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

Reflex 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

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.

Method Name

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)

Reporting Name

Epilepsy/Seizure Genetic Panels

Specimen Type


Specimen Minimum Volume

See Specimen Required.

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Clinical Information

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

An interpretive report will be provided.


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.

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;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

Day(s) Performed


Report Available

10 to 12 weeks

Test Classification

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

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)

81419 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ESPAN Epilepsy/Seizure Genetic Panels In Process


Result ID Test Result Name Result LOINC Value
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