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

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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 IDReporting NameAvailable SeparatelyAlways Performed
_G116Epilepsy Expanded PanelNo, (Bill Only)No
_G117Encephalopathy with Seizures PanelNo, (Bill Only)No
_G118Early Epileptic Encephalopathy PanelNo, (Bill Only)No
_G119Neuronal Migration Disorders PanelNo, (Bill Only)No
_G120Progressive Myoclonic Epilepsy PanelNo, (Bill Only)No
_G121Infantile Spasms PanelNo, (Bill Only)No
_G122Focal Epilepsy PanelNo, (Bill Only)No
_G123Febrile Seizure PanelNo, (Bill Only)No
_G124Epilepsy with Migraine PanelNo, (Bill Only)No
_G131Tuberous Sclerosis PanelNo, (Bill Only)No
G145Hereditary Custom Gene Panel Tier 1No, (Bill Only)No
G146Hereditary Custom Gene Panel Tier 2No, (Bill Only)No
G147Hereditary Custom Gene Panel Tier 3No, (Bill Only)No
G148Hereditary Custom Gene Panel Tier 4No, (Bill Only)No
G149Hereditary Custom Gene Panel Tier 5No, (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
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TSC
TSC1/TSC2
Tuberous Sclerosis Complex
ABAT
ACY1
ADGRG1
ADSL
AFG3L2
ALDH7A1
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AMT
ARFGEF2
ARHGEF9
ARX
ASAH1
ATP13A2
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ATRX
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BOLA3
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CASK
CDKL5
CERS1
CHD2
CHRNA2
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CLCN4
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CNTNAP2
COG7
COG8
COL18A1
COL4A1
COQ9
CPA6
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HCFC1
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IBA57
IER3IP1
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MFSD8
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MRPL12
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RELN
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SERPINI1
SETBP1
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SLC9A6
SMC1A
SMS
SNAP29
SPR
SPTAN1
SRPX2
ST3GAL3
ST3GAL5
STX1B
STXBP1
SYNGAP1
SYP
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TBC1D24
TCF4
TPP1
TSC1
TSC2
TUBA1A
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TWNK
UBE3A
VARS2
VLDLR
WDR45
WDR62
WWOX
ZEB2