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 471 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, seizures related to intellectual disability, and drug metabolism (cytochrome P450 genes and genes in the cannabinoid and cannabadiol pathways).
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:
| Alper's-Huttenlochner and other POLG-related disorders|| POLG|| Avoid valproic acid, which can induce or accelerate liver disease|
|Creatine deficiency syndromes||GAMT, GATM||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 ||EMP2A, EPM2B(NHLRC1)||Avoid phenytoin, lamotrigine, carbamazepine, and oxcarbazepine|
|Unverricht-Lundborg disease ||CSTB||Avoid sodium channel blockers and GABAergic drugs, which can increase myoclonus, dementia, and ataxia|
Product Information Sheets:epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders (471 genes)Addendum A: epiSEEK® Comprehensive by Phenotype Gene List (471)Addendum B: epiSEEK® Comprehensive Gene List (471)Addendum C: epiSEEK® Comprehensive 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 Program: For qualified patients, the Courtagen Care Financial Program can help limit out–of–pocket expenses to $0, $50, or $100 per test.
Online Portal: A secure physician online portal is available for ordering genetic tests and accessing patient reports when completed.
Genetic Counselors: Available to address your questions regarding Courtagen test results.
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.