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.
Indications for Testing
| Primary Indications
||Secondary Indications (examples)|
|Seizures||Autism spectrum disorder|
|Infantile spasms||Developmental delay|
|EEG abnormality||MRI abnormalities|
|Epileptic encephalopathy||Cognitive impairment|
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
|| 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
|| EMP2A, EPM2B(NHLRC1)
||Avoid phenytoin, lamotrigine, carbamazepine, and oxcarbazepine
||CSTB||Avoid sodium channel blockers and GABAergic drugs, which can increase myoclonus, dementia, and ataxia
Product Information Sheets:
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. A qualified applicant may be asked to contribute between $0 and a maximum cost sharing of $200 depending on determination of 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 firstname.lastname@example.org.
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.