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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.

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.


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.

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

Genetics Test Information

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

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

Varies

Specimen Minimum Volume

See Specimen Required.

Specimen Stability Information

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

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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 U.S. 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)

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

NY State Approved

Yes