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HelpTest ID 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.
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)
Special Instructions
- Informed Consent for Genetic Testing
- Molecular Genetics: Neurology Patient Information
- Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
- Informed Consent for Genetic Testing (Spanish)
- Targeted Genes and Methodology Details for Comprehensive Epilepsy With or Without Encephalopathy Gene Panel
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Comprehensive Epilepsy Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming 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