Hereditary Epilepsy Panels [Test in Focus]

Audio Interview

Testing

When to Order

Specimen Info

Performance Info

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Epilepsy is a neurological disorder that is characterized by recurrent and usually unprovoked seizures. A comprehensive diagnostic genetic test is useful in determining a molecular etiology for heterogeneous epilepsy and seizure disorders. The results of this test may help establish a long-term prognosis and guide treatment and care. We offer the most in-depth mutation and copy-number variant (CNV) analysis using next-generation sequencing (NGS) to confirm a diagnosis of an epilepsy or seizure disorder. Also, expert interpretation and availability of our confirmatory biochemical assays provide greater value in this testing.

Christopher Klein, M.D., and Erik Thorland, Ph.D., give an overview of the new hereditary epilepsy panels available through Mayo Clinic Laboratories. They discuss the Mayo Clinic testing approach, interpretation and results, and custom gene ordering.

Testing

• • Epilepsy/Seizure Genetic Panels by Next-Generation Sequencing (NGS) (Mayo ID: ESPAN)

When to Order

• 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.

Specimen Information

• 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.

Performance Information

Day(s) and Time(s) Test Performed

• Performed weekly—varies

Analytic Time

• 10 weeks

Alyssa Frank

Alyssa Frank is a Marketing Segment Manager at Mayo Clinic Laboratories. She leads marketing strategies for product management and specialty testing. Alyssa has worked at Mayo Clinic since 2015.