The commercial genetic testing landscape for Parkinson's disease

Lola Cook*, Jeanine Schulze, ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease, Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors, Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors, Jennifer Verbrugge, James C. Beck, Karen S. Marder, Rachel Saunders-Pullman, Christine Klein, Anna Naito, Roy N. Alcalay

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Introduction: There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation. Methods: The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally. Results: We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial. Conclusion: There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.

Original languageEnglish
Pages (from-to)107-111
Number of pages5
JournalParkinsonism and Related Disorders
Publication statusPublished - 1 Nov 2021

Bibliographical note

Financial disclosures:
Full financial disclosure for the previous 12 months: RNA's research is supported by the NIH, the DoD, the Parkinson's Foundation and the Michael J. Fox Foundation. He has received consultation fees from Genzyme/Sanofi, Restorbio and Roche. LC, JS, JV have no financial disclosures to report. JB and AN are employed by the Parkinson's Foundation. KM receives research support from the NIH (NS100600, UL1TR001873. U24NS107168, RM1HG007257), Parkinson Disease Foundation, Michael J Fox Foundation and Lewy Body Disease Association. RSP receives funding from NIH NS-107016 and the Bigglesworth Family Foundation, and is the Bachmann Strauss Chair. CK serves as a medical advisor to Centogene for curation of genetic testing reports in the fields of movement disorders and dementia, but excluding Parkinson's disease.

Publisher Copyright:
© 2021 The Author(s)


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