CLN2 Lab Listing - Paediatricseizures

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Stay Informed About CLN2 Disease

Select your country below to find a no-cost test sponsored by BioMarin

The list of laboratories provided does not include all laboratories that perform paediatric epilepsy diagnostic testing. These laboratories are affiliated with BioMarin and participate in commercially sponsored diagnostic testing programmes. There may or may not be a sponsored programme or test in your area.

In paediatric patients with seizures of unknown cause, consider:

- Gene panel molecular testing in the case of general suspicion of a genetic aetiology of epilepsy. A comprehensive epilepsy gene panel can analyze up to hundreds of genes linked to genetic epilepsy and neurodegenerative diseases such as CLN2 in one test.^3,4 Please note, if you decide to use your local hospital testing facility, please ensure TPP1/CLN2 gene is included in all epilepsy targeted panels.

- TPP1 enzyme testing in the case of a high suspicion of CLN2 disease. A simple blood test can confirm or rule out deficiency of TPP1 enzyme that causes CLN2 disease (in the case of a positive result a molecular/DNA confirmation of variants in the TPP1 gene is recommended for confirming diagnosis).³

Disclaimer

These no-cost testing programmes are sponsored by BioMarin for patients meeting the inclusion criteria. BioMarin does not have influence over testing procedures, nor does it have access to individual patient test results. Some URLS will direct the user to a third party website, which is not the property of BioMarin.

Stay Informed

Keep up-to-date with CLN2 disease research, education, promotions and events.

Neuronal Ceroid Lipofuscinosis Type 2 (CLN2 Disease)

Learn more about CLN2 disease, one of the most common forms of NCLs.²

Visit CLN2 Disease Website

Genetic Testing Publications

Fietz M et al. Diagnosis of neuronal ceroid lipofuscinosis 2: Expert recommendations…

Mei D et al. The Impact of Next-Generation Sequencing on the Diagnosis…

~ The reported data on percentage of epilepsies with genetic aetiology has a range according to country and publication from 14% -24.4% ⁶ to 50% ¹ to 70-80%.⁷

^ Number of genes tested in epilepsy panel may vary in each laboratory, ranging from few genes to over 400+ genes.

References:

Pal DK et al. Genetic evaluation and counselling for epilepsy. Nature Rev Neurology. 2010;6:445-453.
Mole SE and Cotman SL. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta. 2015;1852(10 Pt B): 2237-41.
Fietz M et al. Diagnosis of neuronal ceroid lipofuscinosis 2: Expert recommendations for early detection and laboratory studies. Mol Genet Metab. 2016; 119(1-2):160-167. 2,A,9.
Mei D, Parrini E, Marini C, Guerrini R. The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Mol Diagn Ther. 2017;21(4):357-373. doi:10.1007/s40291-017-0257-0.
Nickel M, Simonati A, Jacoby D. Disease characteristics and progression in patients with CLN2 disease: an observational cohort study. Lancet Child Adolesc Health. 2018;2(8):582-590.
Truty et al. Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. Epilepsia Open. 2019;4:397–408.
Amadori et al. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy. Italian Journal of Pediatrics. 2020; 46:92. https://doi.org/10.1186/s13052-020-00860-1

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