Lola Cook1, Jeanine Schulze2, Jennifer Verbrugge2, James C Beck3, Karen S Marder4, Rachel Saunders-Pullman5, Christine Klein6, Anna Naito3, Roy N Alcalay4. 1. Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA. Electronic address: lpcook@iu.edu. 2. Department of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA. 3. Parkinson's Foundation, NY, NY, USA. 4. Department of Neurology, Columbia University College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA. 5. Department of Neurology, Mount Sinai Beth Israel, New York, NY, USA. 6. Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Abstract
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.
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.
Authors: N Pankratz; D K Kissell; M W Pauciulo; C A Halter; A Rudolph; R F Pfeiffer; K S Marder; T Foroud; W C Nichols Journal: Neurology Date: 2009-07-28 Impact factor: 9.910
Authors: Roy N Alcalay; Caitlin Kehoe; Evan Shorr; Roseanna Battista; Anne Hall; Tanya Simuni; Karen Marder; Anne-Marie Wills; Anna Naito; James C Beck; Michael A Schwarzschild; Martha Nance Journal: Genet Med Date: 2019-11-04 Impact factor: 8.822
Authors: Emily J Hill; Laurie A Robak; Rami Al-Ouran; Jennifer Deger; Jamie C Fong; Paul Jerrod Vandeventer; Emily Schulman; Sindhu Rao; Hiba Saade; Joseph M Savitt; Rainer von Coelln; Neeja Desai; Harshavardhan Doddapaneni; Sejal Salvi; Shannon Dugan-Perez; Donna M Muzny; Amy L McGuire; Zhandong Liu; Richard A Gibbs; Chad Shaw; Joseph Jankovic; Lisa M Shulman; Joshua M Shulman Journal: Neurol Genet Date: 2022-06-09