epiSEEK® Triome 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.

The epiSEEK® Triome™ panel is designed to provide the most complete picture for epilepsy and seizure disorders. It employs powerful trio analysis, by fully sequencing the parent’s samples along with the patient, to enable extensive genetic analysis and clinical interpretation of an expanded selection of genes (over 1,000) associated with neurological function, and epileptic and seizure disorder phenotypes, as well as and genes for differential diagnosis, including inborn errors of metabolism, congenital disorders of glycosylation, peroxisomal biogenesis disorders, 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.

Indications for Testing

Primary Indications
Secondary Indications (examples)
SeizuresAutism spectrum disorder
Infantile spasmsDevelopmental delay
EEG abnormalityMRI abnormalities
Brain malformationsNeuroregression
Epileptic encephalopathyCognitive impairment
Visual impairment
Visual impairment

Movement disorders

Results can have immediate implications for treatment:

 Disorder/SyndromeGene 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
SCN1AValproate, clobazam, stiripentol, levetiracetam, topiramate.  Avoid phenytoin, carbamazepine, and lamotigine
Glucose transporter type 1 deficiency syndrome
SLC2A1Seizures typically respond to a ketogenic diet
Pyridoxal 5'-phosphate-dependent epilepsy
PNPOSeizures respond to treatment with supplemental pryidoxal 5-phosphate (PLP)
Pyridoxine-dependent epilepsy. Folinic-acid responsive seizures.
ALDH7A1Seizures respond to treatment with supplemental pryidoxine and/or folinic acid
Lafora disease 
Avoid phenytoin, lamotrigine, carbamazepine, and oxcarbazepine
Unverricht-Lundborg disease 
CSTBAvoid sodium channel blockers and GABAergic drugs, which can increase myoclonus, dementia, and ataxia

Click here for more information on treatment implications

Product Information Sheets:

epiSEEK® Triome Sequence Analysis for Epilepsy and Seizure Disorders

epiSEEK® Triome Panel Gene List

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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