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Test Code 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.

Secondary ID

616550

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)

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Comprehensive Epilepsy Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

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

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

28 to 42 days

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. 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