Blueprint Genetics and BioMarin collaborate to offer a no-cost 511-gene Comprehensive Epilepsy Panel including mitochondrial genome sequencing and copy number variant (CNV) analysis for diagnostics of the genetic cause of paediatric epilepsy.
This program is for individuals in Europe and the Middle East and is currently only available for children whose first unprovoked seizure occurs between 2 and 4 years of age (24-48 months). Please see “Who Is Eligible for Testing” below.
Ordering is easy through the Blueprint Genetics online ordering portal, Nucleus. We also provide free sample collection kits with return shipment to our facility in Helsinki. Results are available in the Nucleus portal approximately 4 weeks after we receive the sample. Read more under “How to order”.
Why do genetic testing for early-onset epilepsy?
Genetic testing is an effective way to determine the underlying cause of early onset seizures. This program aims to improve early detection of neurodegenerative diseases that begin in early childhood and often initially present with seizures.
- Early utilization of molecular diagnostics can dramatically shorten the diagnostic pathway, enable early interventions, help determine prognosis, direct medical management, and improve patient outcomes.
- Through this program, healthcare providers have easy and immediate access to one of the highest quality epilepsy genetic tests on the market for their patients.
- An accurate molecular diagnosis can also decrease the need for other medical tests and assist with family planning and risk stratification in the family.
Why select the Beyond Paediatric Epilepsy Program for your patient?
This panel offers you:
- Rapid and comprehensive genetic testing for your patients – results in 4 weeks
- A 511-gene panel that includes accurate detection of single nucleotide variants, high resolution copy number variant detection, clinically relevant non-coding variants and the analysis of mitochondrial genome – all in a single test
- Clinical reports created by a team of specialists who analyze results for thousands of neurological patients annually
- Early access to genetic testing can detect severe underlying causes that may be treatable
- Clinical genetics support is available in addition to our comprehensive clinical statement
- Strict data privacy and data sharing policies provide secure testing for your patient
Read more about the panel here.
Who is eligible for testing?
The patient should:
- Be ≥24 months and ≤48 months old
- Have experienced their first unprovoked seizure after the age of 24 months
- Have one of the following: history of language delay or regression, motor impairments or regression (ataxia, abnormal gait, etc), EEG abnormality, MRI abnormality
- Have consent from their legal guardian for this program
- Live in Europe or the Middle East*
Clinic notes** from the physician or hospital assessing the clinical condition of the patient is needed.
*To see the complete list of countries included in the programme, please click here. Please note when ordering, there is a limitation of 5 requested sample collection kits per institution for the calendar year.
**If you do not or cannot send clinic notes, you will be required to declare that the provided medical information corresponds to the medical history of the patient(s).
How do I order the Beyond Paediatric Epilepsy Panel for my patient?
The easiest way to order is:
- Order a sample collection kit. The kit includes instructions for collecting and sending the patient sample and consent form
- Order the Beyond Paediatric Epilepsy Panel by logging in to our online portal Nucleus
- Access the test results by logging in to your Nucleus account after receiving an email notification regarding completed test results. The great majority of panels are reported out in 28 days
1. Order a sample collection kit with pre-paid return shipment labels
- Order the sample collection kit and we will send it to you. The kit includes further instructions for collecting and sending the patient sample and consent form.
- Label the sample collection tube with the patient name, date of birth and sample collection date. Read more about sample requirements here.
- You can also download the consent form below by choosing Download consent form and then ‘Order form’. The parent/guardian must sign the Beyond Paediatric Epilepsy Consent form. This form can be uploaded into Nucleus, sent to Blueprint Genetics with the sample or faxed.
2. Log in to Nucleus to order the Beyond Paediatric Epilepsy Panel
- To place the order, log in to nucleus.blueprintgenetics.com. If you are a new user, create an online account free of charge.
- Select the medical specialty “Neurology” and then select the “Beyond Paediatric Epilepsy Panel”.
- Fill in the requisition form and submit. A printed copy of the order is not required.
- Provide Blueprint Genetics the Beyond Paediatric Epilepsy Consent Form signed by the parent/guardian (upload into Nucleus, fax or send with the patient sample).
- Need help in using Nucleus? Contact our Support team at email@example.com to assist you in placing an order.
Data protection and sharing
- Programme participants’ samples and personal data will be processed only to the extent necessary to perform diagnostic testing and to share deidentified data with BioMarin. Further research use of the sample and data is voluntary and subject to a separate opt-in.
- All essential information on data sharing can be found on the Beyond Paediatric Epilepsy Consent form. This form must be signed and returned to Blueprint Genetics. This form states:
- Blueprint Genetics will only share deidentified patient data with a sponsor.
- Deidentified patient data is limited to the clinical diagnosis, age of the patient, gender and variants with potential to be clinically significant. No identifiable patient information or raw data sequence data will be shared.
- Blueprint Genetics is authorised to share information about the hospital where the patient is treated. We will not share any details about the treating physician(s).
- If separately consented, Blueprint Genetics may use the samples and data internally to improve the understanding and diagnostics of inherited epilepsies. No samples or identifiable research data will be shared with third parties without express permission.
- All data will be processed and shared in accordance with the EU General Data Protection Regulation 2016/679. The anonymized variants found in this initiative will be shared in databases, such as ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) to help other patients around the world. These variants may also be listed in a scientific peer-reviewed publication about comprehensive genetic testing in childhood epilepsy.
What is the Beyond Paediatric Epilepsy Panel?
- It is a comprehensive, 511-gene panel that includes high resolution CNV detection and the analysis of over 140 noncoding variants associated with epilepsies and not typically covered by standard genetic tests for epilepsy.
- Includes mitochondrial genome analysis.
- Is easily expanded to whole exome sequencing (WES) for an additional fee. Read more about Expand to Exome here.
Family Member Testing
Testing family members for variants identified by this panel is available as part of our regular services.
Click here to find out more about Familial Variant Testing services provided by Blueprint Genetics.
About Blueprint Genetics
Blueprint Genetics is a genetic testing company focused on human rare disease, performing genetic testing for thousands of epilepsy patients annually. With a patient-first mindset, the company has developed innovative genetic testing technologies to increase the diagnostic yield for patients with inherited disorders. Blueprint Genetics is a CLIA certified, CAP accredited, ISO15189 accredited next generation sequencing laboratory and all offered panels have CE IVD marking. All testing and data storage related to the Beyond Paediatric Epilepsy Program are managed in our European facility in Helsinki. More information can be found at: blueprintgenetics.com/about-us.
BioMarin is a global biotechnology company that develops and commercializes innovative therapies for people with serious and life-threatening rare diseases and medical conditions. The company selects product candidates for diseases and conditions that represent a significant unmet medical need, have well-understood biology and provide an opportunity to be first-to-market or offer a significant benefit over existing products. The portfolio consists of several commercial therapies and multiple clinical and preclinical product candidates.
Copyright © 2021 Blueprint Genetics. All trademarks are property of their respective owners.