Sponsored Testing Program
The sponsored Gene Panel program is a collaboration between BioMarin Pharmaceutical Inc (the Sponsor) and CENTOGENE. The Sponsor provides financial support for this program while tests and services are performed by CENTOGENE. The Sponsor also receive de-identified patient data from this program, but no patient identifiable information. The Sponsors receives contact information for healthcare professionals who use this program. Physicians participating in this program have no obligation to recommend, purchase, order, prescribe, administer, use or support any product or service of the Sponsor.
The Gene Panels analyse genes that are associated with both syndromic and non-syndromic causes of skeletal dysplasia, epilepsy and ataxia. These genes were selected based to provide a broad panel for conditions associated with MPS and CLN2 and their differential diagnoses. Testing using these panels allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication.
Following the genetic analysis, the treating physician receives a comprehensive report from CENTOGENE detailing the patient’s test results, along with additional information and recommendations regarding the performed test and the genetic diagnosis.
BioMarin sponsors a Skeletal Dysplasia and an Epilepsy/Ataxia gene panel test for patients who meet the program’s eligibility criteria, as detailed in the test requistion form.
This Program is Sponsored and Funded by
Please use the form below to request your sample shipment materials. Depending on your country of residence, you will receive either a CentoCard® or a box with shipping supplies. In case your country is not selectable from the drop-down list please reach out to your local BioMarin contact.
The collection pack includes sample collection and shipment instructions and return shipment material.
During the appointment, the physician consults with the patient, collects the blood sample, and either prepares a CentoCard® or places the K2/K3 EDTA blood tube directly into the materials provided in the shipment box. All necessary documents are included in the collection packs and need to be completed and sent directly to the CENTOGENE laboratory.
Physicians receive the results within 25 working days after sample receipt directly via our secure online portal, CentoPortal®.
Important: If you have not yet used CentoPortal®, please do not create an account yourself. CENTOGENE will set it up for you once the report has been finalized, and you will be informed about the next steps via email.
The complex nature of skeletal dysplasias can lead to diagnostic delays or misdiagnosis which can result in less-optimal patient outcomes, including potential surgical risks.
Some forms of skeletal dysplasia, like mucopolysaccharidoses (MPS), can sometimes be misdiagnosed, e.g. Legg-Calve-Perthes (LCPD), Multiple epiphyseal dysplasia (MED) and spondyloepiphyseal dysplasia (SED), given the considerable phenotype overlap amongst skeletal dysplasia conditions. [1–13]
More than 50% of epilepsies can have a genetic basis.
The non-specific nature of the presenting symptoms of CLN2 disease can cause diagnostic delays, which can result in further delays to the provision of disease-specific treatment. Relevant gene panels such as symptom-based panels may speed the diagnostic process. [14, 15]
By incorporating the Epilepsy/Ataxia gene panel into your initial workup you can help:
References: 1. Mortier GR, et al. Am J Med Genet A. 2019;179(12):2393–2419. 2. Lachman RS, et al. Skeletal Radiol. 2014;43(3):359–369. 3. Hendriksz CJ, et al. Am J Med Genet A. 2014;167(1):11–25. 4. Scocchia A, et al. Orphanet J Rare Dis. 2021;16:412. 5. Krakow D. Clin Perinatol. 2015;42(2):301–319. 6. Nikkel SM. Curr Osteoporos Rep. 2017;15(5):419–424. 7. Liu Z, et al. Trends Genet. 2019;35(11):852–867. 8. SerattiG, Pansare V, Pang TY, et al. Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: results from 850 tests. Poster presented at the 17th Annual WorldSymposiumTM: February 8-12, 2021. 9. NikkelSM. Skeletal dysplasias: what every bone health clinician needs to know. Cur OsteoporosRep. 2017;15(5):419-424. doi:10.1007/s11914-017-0392-x 10. Clarke L, EllawayC, Foster HE, et al. Understanding the early presentation of mucopolysaccharidoses disorders: results of a systematic literature review and physiciansurvey. J Inborn Errors MetabScreen.2018;6:1-12. doi:10.1177/2326409818800346 11. HendrikszCJ, Berger KI, GiuglianiR, et al. International guidelines for the management and treatment of MorquioA syndrome. Am J Med Genet Part A. 2015;167A(1):11-25. doi:10.1002/ajmg.a.36833. 12. Unger S, et al. Nosology and classification of genetic skeletal disorders: 2023 revision. Am J Med Genet. 2023;191(6):1160-1198. 13. Krakow D. Skeletal dysplasias. Clin Perinatol. 2015;42(2):301-319. doi:10.1016/ 14. Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445-453. 15. M. Mazurkiewicz-Beldzinska, et al (2021) Expert Review of Neurotherapeutics, 1-24 3. M. Fietz et al (2016) Molecular Genetics and Metabolism (119)160-167
Orders and inquiries about the program:
Please use the order form to request a kit. You can also reach out to your BioMarin contact directly.
Laboratory Details:
CENTOGENE GmbH
Am Strande 7, 18055 Rostock
+49 (0) 381 80 113-416
(Mo–Fr: 8 a.m.–6:30 p.m. CET)
customer.support@centogene.com
Delivery of Results:
centoportal.com
Book the pickup 24 hourse in advance
Please provide all required details in the form, including a 4-hour pickup time window. You will receive a digital return label from logistics@centogene.com and, if applicable, a proforma invoice (for shipments originating outside the EU). Print the label provided to you via email and attach it to the outside of the package in accordance with the provided instructions.
Laboratory Details:
CENTOGENE GmbH
Am Strande 7, 18055 Rostock
+49 (0) 381 80 113-416
(Mo–Fr: 8 a.m.–6:30 p.m. CET)
Delivery of Results:
centoportal.com
Depending on the provided indication CENTOGENE will perform an Epilepsy or Skeletal Dysplasia gene panel based.
As this is a fully funded (sponsored) program by BioMarin, neither physicians nor their patients incur any costs for the analysis or sample shipment.
No. As this is a fully funded (sponsored) program, neither physicians nor their patients incur any costs for the analysis or sample shipment.
Please follow the instructions provided with each collection pack.
No. Genetic analyses must be requested by a qualified physician.
You will receive the results via the CentoPortal® within 25 business days.
If you do not yet have an account, CENTOGENE will create one for you as soon as the laboratory report is completed. You will then receive an email with further instructions and a link to provide the username and password to access the reports.
Please contact the CENTOGENE Customer Support at:
customer.support@centogene.com
+49 (0) 381 80 113-416
(Mo–Fr: 8 a.m.–6:30 p.m. CET)
Please contact the CENTOGENE Customer Support at:
customer.support@centogene.com
*For Healthcare Professionals only. [MED-ET-0069 December 2025]
Mon. – Fri. 7 a.m. – 6:30 p.m. CET
Sat. 8 a.m. – 12 p.m. CET
Request a service
We aim to reply within 48 hours
