epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders

Knowing the genetic basis of a patient’s epilepsy is valuable for obtaining a definitive diagnosis, estimating prognosis, determining recurrence risks, and guiding treatment choices. In many cases, the precise genetic diagnosis can be important in therapy selection, particularly when there are known contraindications or recommended treatment options based on genetic results. The differential diagnosis for the cause of seizures is quite diverse and complex, and more than half of all epilepsies have been attributed to a genetic cause.

Courtagen’s epiSEEK® Comprehensive Sequence Analysis test provides extensive genetic analysis and clinical interpretation of data generated by the complete sequencing of 465 genes associated with epileptic and seizure disorder phenotypes. The updated panel includes several recently published genes. Multiple categories of disorders from earlier panel designs were expanded, including inborn errors of metabolism, congenital disorders of glycosylation, peroxisomal biogenesis disorders, and seizures related to intellectual disability. In addition, the test can include and optional drug metabolism report with guidance for 24 classes of anti-epileptic drugs and associated interactions.

Del/Dup Additional Analysis (76 genes): Additional analysis of exon-sized (and larger) deletion and duplication variants in 76 genes is available as an add-on for both the epiSEEK Focus and epiSEEK Comprehensive panels.

Results can have immediate implications for treatment:

 Disorder/Syndrome Gene  Implications for Treatment
  Alper's-Huttenlochner and other POLG-related   disorders
 POLG  Avoid valproic acid, which can induce or   accelerate liver disease
Creatine deficiency syndromes
Oral creatine (GAMT, AGAT)
Dravet syndrome, and other SCN1A-related disorders
SCN1A Valproate, clobazam, stiripentol, levetiracetam, topiramate.  Avoid phenytoin, carbamazepine, and lamotigine
Glucose transporter type 1 deficiency syndrome
SLC2A1 Seizures typically respond to a ketogenic diet
Pyridoxal 5'-phosphate-dependent epilepsy
PNPO Seizures respond to treatment with supplemental pryidoxal 5-phosphate (PLP)
Pyridoxine-dependent epilepsy. Folinic-acid responsive seizures.
ALDH7A1 Seizures respond to treatment with supplemental pryidoxine and/or folinic acid
Lafora disease
Avoid phenytoin, lamotrigine, carbamazepine, and oxcarbazepine
Unverricht-Lundborg disease
CSTB Avoid sodium channel blockers and GABAergic drugs, which can increase myoclonus, dementia, and ataxia

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Product Information Sheets:

epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders (471 genes)

epiSEEK® Comprehensive Panel Gene List by Phenotype Gene List (471)

epiSEEK® Comprehensive Panel Gene List (471)

epiSEEK® Comprehensive Panel Gene List with Inheritance Association (471)

Courtagen's Unmatched Customer Support

Turn Around Time:4-6 weeks. Results are delivered in weeks, not months.

Saliva Sample:DNA for sequencing is reliably extracted from a single saliva sample. No blood draw or muscle biopsy required. (Whole blood and tissue are accepted, as requested.)

Insurance Assistance:Courtagen works with patients, physicians, and insurance carriers to pre-approve each test. Courtagen will bill the insurance company, and is willing to handle an appeal process as needed.

Courtagen Care Financial Assistance Program: Provides financial assistance to patients based on demonstrated financial need. 

Online Portal:A secure physician online portal is available for ordering genetic tests and accessing patient reports when completed.

Genetic Counselors: Available to address physician’s questions regarding Courtagen test results. Contact us at clinical@courtagen.com.

Clinical Experience:Courtagen’s Medical Director, Laboratory Director, and variant science team have over 25 years of experience in the treatment and genetic interpretation of neurological disorders.

Reports:Utilizing Courtagen’s customized Ziphyr® informatics pipeline and thorough clinical evaluation, each report is provided in a concise format with interpretation and recommendations for consideration.

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