Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therap...
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Autor*in:	Ganapathy, Aparna [verfasserIn] Mishra, Avshesh [verfasserIn] Soni, Megha Rani [verfasserIn] Kumar, Priyanka [verfasserIn] Sadagopan, Mukunth [verfasserIn] Kanthi, Anil Vittal [verfasserIn] Patric, Irene Rosetta Pia [verfasserIn] George, Sobha [verfasserIn] Sridharan, Aparajit [verfasserIn] Thyagarajan, T. C. [verfasserIn] Aswathy, S. L. [verfasserIn] Vidya, H. K. [verfasserIn] Chinnappa, Swathi M. [verfasserIn] Nayanala, Swetha [verfasserIn] Prakash, Manasa B. [verfasserIn] Raghavendrachar, Vijayashree G. [verfasserIn] Parulekar, Minothi [verfasserIn] Gowda, Vykuntaraju K. [verfasserIn] Nampoothiri, Sheela [verfasserIn] Menon, Ramshekhar N. [verfasserIn] Pachat, Divya [verfasserIn] Udani, Vrajesh [verfasserIn] Naik, Neeta [verfasserIn] Kamate, Mahesh [verfasserIn] Devi, A. Radha Rama [verfasserIn] Mohammed Kunju, P. A. [verfasserIn] Nair, Mohandas [verfasserIn] Hegde, Anaita Udwadia [verfasserIn] Kumar, M. Pradeep [verfasserIn] Sundaram, Soumya [verfasserIn] Tilak, Preetha [verfasserIn] Puri, Ratna D. [verfasserIn] Shah, Krati [verfasserIn] Sheth, Jayesh [verfasserIn] Hasan, Qurratulain [verfasserIn] Sheth, Frenny [verfasserIn] Agrawal, Pooja [verfasserIn] Katragadda, Shanmukh [verfasserIn] Veeramachaneni, Vamsi [verfasserIn] Chandru, Vijay [verfasserIn] Hariharan, Ramesh [verfasserIn] Mannan, Ashraf U. [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	Neurological disorders Genetic testing Next-generation sequencing Multi-gene panel

Übergeordnetes Werk:	Enthalten in: Journal of neurology - [Darmstadt] : Steinkopff, 1891, 266(2019), 8 vom: 08. Mai, Seite 1919-1926
Übergeordnetes Werk:	volume:266 ; year:2019 ; number:8 ; day:08 ; month:05 ; pages:1919-1926

Links:	Volltext

DOI / URN:	10.1007/s00415-019-09358-1

Katalog-ID:	SPR005380537

Internformat


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520			\|a Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner.
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allfields	10.1007/s00415-019-09358-1 doi (DE-627)SPR005380537 (SPR)s00415-019-09358-1-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.90 bkl Ganapathy, Aparna verfasserin aut Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner. Neurological disorders (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Multi-gene panel (dpeaa)DE-He213 Mishra, Avshesh verfasserin aut Soni, Megha Rani verfasserin aut Kumar, Priyanka verfasserin aut Sadagopan, Mukunth verfasserin aut Kanthi, Anil Vittal verfasserin aut Patric, Irene Rosetta Pia verfasserin aut George, Sobha verfasserin aut Sridharan, Aparajit verfasserin aut Thyagarajan, T. C. verfasserin aut Aswathy, S. L. verfasserin aut Vidya, H. K. verfasserin aut Chinnappa, Swathi M. verfasserin aut Nayanala, Swetha verfasserin aut Prakash, Manasa B. verfasserin aut Raghavendrachar, Vijayashree G. verfasserin aut Parulekar, Minothi verfasserin aut Gowda, Vykuntaraju K. verfasserin aut Nampoothiri, Sheela verfasserin aut Menon, Ramshekhar N. verfasserin aut Pachat, Divya verfasserin aut Udani, Vrajesh verfasserin aut Naik, Neeta verfasserin aut Kamate, Mahesh verfasserin aut Devi, A. Radha Rama verfasserin aut Mohammed Kunju, P. A. verfasserin aut Nair, Mohandas verfasserin aut Hegde, Anaita Udwadia verfasserin aut Kumar, M. Pradeep verfasserin aut Sundaram, Soumya verfasserin aut Tilak, Preetha verfasserin aut Puri, Ratna D. verfasserin aut Shah, Krati verfasserin aut Sheth, Jayesh verfasserin aut Hasan, Qurratulain verfasserin aut Sheth, Frenny verfasserin aut Agrawal, Pooja verfasserin aut Katragadda, Shanmukh verfasserin aut Veeramachaneni, Vamsi verfasserin aut Chandru, Vijay verfasserin aut Hariharan, Ramesh verfasserin aut Mannan, Ashraf U. verfasserin aut Enthalten in Journal of neurology [Darmstadt] : Steinkopff, 1891 266(2019), 8 vom: 08. Mai, Seite 1919-1926 (DE-627)242065155 (DE-600)1421299-7 1432-1459 nnns volume:266 year:2019 number:8 day:08 month:05 pages:1919-1926 https://dx.doi.org/10.1007/s00415-019-09358-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 266 2019 8 08 05 1919-1926
spelling	10.1007/s00415-019-09358-1 doi (DE-627)SPR005380537 (SPR)s00415-019-09358-1-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.90 bkl Ganapathy, Aparna verfasserin aut Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner. Neurological disorders (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Multi-gene panel (dpeaa)DE-He213 Mishra, Avshesh verfasserin aut Soni, Megha Rani verfasserin aut Kumar, Priyanka verfasserin aut Sadagopan, Mukunth verfasserin aut Kanthi, Anil Vittal verfasserin aut Patric, Irene Rosetta Pia verfasserin aut George, Sobha verfasserin aut Sridharan, Aparajit verfasserin aut Thyagarajan, T. C. verfasserin aut Aswathy, S. L. verfasserin aut Vidya, H. K. verfasserin aut Chinnappa, Swathi M. verfasserin aut Nayanala, Swetha verfasserin aut Prakash, Manasa B. verfasserin aut Raghavendrachar, Vijayashree G. verfasserin aut Parulekar, Minothi verfasserin aut Gowda, Vykuntaraju K. verfasserin aut Nampoothiri, Sheela verfasserin aut Menon, Ramshekhar N. verfasserin aut Pachat, Divya verfasserin aut Udani, Vrajesh verfasserin aut Naik, Neeta verfasserin aut Kamate, Mahesh verfasserin aut Devi, A. Radha Rama verfasserin aut Mohammed Kunju, P. A. verfasserin aut Nair, Mohandas verfasserin aut Hegde, Anaita Udwadia verfasserin aut Kumar, M. Pradeep verfasserin aut Sundaram, Soumya verfasserin aut Tilak, Preetha verfasserin aut Puri, Ratna D. verfasserin aut Shah, Krati verfasserin aut Sheth, Jayesh verfasserin aut Hasan, Qurratulain verfasserin aut Sheth, Frenny verfasserin aut Agrawal, Pooja verfasserin aut Katragadda, Shanmukh verfasserin aut Veeramachaneni, Vamsi verfasserin aut Chandru, Vijay verfasserin aut Hariharan, Ramesh verfasserin aut Mannan, Ashraf U. verfasserin aut Enthalten in Journal of neurology [Darmstadt] : Steinkopff, 1891 266(2019), 8 vom: 08. Mai, Seite 1919-1926 (DE-627)242065155 (DE-600)1421299-7 1432-1459 nnns volume:266 year:2019 number:8 day:08 month:05 pages:1919-1926 https://dx.doi.org/10.1007/s00415-019-09358-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 266 2019 8 08 05 1919-1926
allfields_unstemmed	10.1007/s00415-019-09358-1 doi (DE-627)SPR005380537 (SPR)s00415-019-09358-1-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.90 bkl Ganapathy, Aparna verfasserin aut Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner. Neurological disorders (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Multi-gene panel (dpeaa)DE-He213 Mishra, Avshesh verfasserin aut Soni, Megha Rani verfasserin aut Kumar, Priyanka verfasserin aut Sadagopan, Mukunth verfasserin aut Kanthi, Anil Vittal verfasserin aut Patric, Irene Rosetta Pia verfasserin aut George, Sobha verfasserin aut Sridharan, Aparajit verfasserin aut Thyagarajan, T. C. verfasserin aut Aswathy, S. L. verfasserin aut Vidya, H. K. verfasserin aut Chinnappa, Swathi M. verfasserin aut Nayanala, Swetha verfasserin aut Prakash, Manasa B. verfasserin aut Raghavendrachar, Vijayashree G. verfasserin aut Parulekar, Minothi verfasserin aut Gowda, Vykuntaraju K. verfasserin aut Nampoothiri, Sheela verfasserin aut Menon, Ramshekhar N. verfasserin aut Pachat, Divya verfasserin aut Udani, Vrajesh verfasserin aut Naik, Neeta verfasserin aut Kamate, Mahesh verfasserin aut Devi, A. Radha Rama verfasserin aut Mohammed Kunju, P. A. verfasserin aut Nair, Mohandas verfasserin aut Hegde, Anaita Udwadia verfasserin aut Kumar, M. Pradeep verfasserin aut Sundaram, Soumya verfasserin aut Tilak, Preetha verfasserin aut Puri, Ratna D. verfasserin aut Shah, Krati verfasserin aut Sheth, Jayesh verfasserin aut Hasan, Qurratulain verfasserin aut Sheth, Frenny verfasserin aut Agrawal, Pooja verfasserin aut Katragadda, Shanmukh verfasserin aut Veeramachaneni, Vamsi verfasserin aut Chandru, Vijay verfasserin aut Hariharan, Ramesh verfasserin aut Mannan, Ashraf U. verfasserin aut Enthalten in Journal of neurology [Darmstadt] : Steinkopff, 1891 266(2019), 8 vom: 08. Mai, Seite 1919-1926 (DE-627)242065155 (DE-600)1421299-7 1432-1459 nnns volume:266 year:2019 number:8 day:08 month:05 pages:1919-1926 https://dx.doi.org/10.1007/s00415-019-09358-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 266 2019 8 08 05 1919-1926
allfieldsGer	10.1007/s00415-019-09358-1 doi (DE-627)SPR005380537 (SPR)s00415-019-09358-1-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.90 bkl Ganapathy, Aparna verfasserin aut Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner. Neurological disorders (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Multi-gene panel (dpeaa)DE-He213 Mishra, Avshesh verfasserin aut Soni, Megha Rani verfasserin aut Kumar, Priyanka verfasserin aut Sadagopan, Mukunth verfasserin aut Kanthi, Anil Vittal verfasserin aut Patric, Irene Rosetta Pia verfasserin aut George, Sobha verfasserin aut Sridharan, Aparajit verfasserin aut Thyagarajan, T. C. verfasserin aut Aswathy, S. L. verfasserin aut Vidya, H. K. verfasserin aut Chinnappa, Swathi M. verfasserin aut Nayanala, Swetha verfasserin aut Prakash, Manasa B. verfasserin aut Raghavendrachar, Vijayashree G. verfasserin aut Parulekar, Minothi verfasserin aut Gowda, Vykuntaraju K. verfasserin aut Nampoothiri, Sheela verfasserin aut Menon, Ramshekhar N. verfasserin aut Pachat, Divya verfasserin aut Udani, Vrajesh verfasserin aut Naik, Neeta verfasserin aut Kamate, Mahesh verfasserin aut Devi, A. Radha Rama verfasserin aut Mohammed Kunju, P. A. verfasserin aut Nair, Mohandas verfasserin aut Hegde, Anaita Udwadia verfasserin aut Kumar, M. Pradeep verfasserin aut Sundaram, Soumya verfasserin aut Tilak, Preetha verfasserin aut Puri, Ratna D. verfasserin aut Shah, Krati verfasserin aut Sheth, Jayesh verfasserin aut Hasan, Qurratulain verfasserin aut Sheth, Frenny verfasserin aut Agrawal, Pooja verfasserin aut Katragadda, Shanmukh verfasserin aut Veeramachaneni, Vamsi verfasserin aut Chandru, Vijay verfasserin aut Hariharan, Ramesh verfasserin aut Mannan, Ashraf U. verfasserin aut Enthalten in Journal of neurology [Darmstadt] : Steinkopff, 1891 266(2019), 8 vom: 08. Mai, Seite 1919-1926 (DE-627)242065155 (DE-600)1421299-7 1432-1459 nnns volume:266 year:2019 number:8 day:08 month:05 pages:1919-1926 https://dx.doi.org/10.1007/s00415-019-09358-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 266 2019 8 08 05 1919-1926
allfieldsSound	10.1007/s00415-019-09358-1 doi (DE-627)SPR005380537 (SPR)s00415-019-09358-1-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.90 bkl Ganapathy, Aparna verfasserin aut Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner. Neurological disorders (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Multi-gene panel (dpeaa)DE-He213 Mishra, Avshesh verfasserin aut Soni, Megha Rani verfasserin aut Kumar, Priyanka verfasserin aut Sadagopan, Mukunth verfasserin aut Kanthi, Anil Vittal verfasserin aut Patric, Irene Rosetta Pia verfasserin aut George, Sobha verfasserin aut Sridharan, Aparajit verfasserin aut Thyagarajan, T. C. verfasserin aut Aswathy, S. L. verfasserin aut Vidya, H. K. verfasserin aut Chinnappa, Swathi M. verfasserin aut Nayanala, Swetha verfasserin aut Prakash, Manasa B. verfasserin aut Raghavendrachar, Vijayashree G. verfasserin aut Parulekar, Minothi verfasserin aut Gowda, Vykuntaraju K. verfasserin aut Nampoothiri, Sheela verfasserin aut Menon, Ramshekhar N. verfasserin aut Pachat, Divya verfasserin aut Udani, Vrajesh verfasserin aut Naik, Neeta verfasserin aut Kamate, Mahesh verfasserin aut Devi, A. Radha Rama verfasserin aut Mohammed Kunju, P. A. verfasserin aut Nair, Mohandas verfasserin aut Hegde, Anaita Udwadia verfasserin aut Kumar, M. Pradeep verfasserin aut Sundaram, Soumya verfasserin aut Tilak, Preetha verfasserin aut Puri, Ratna D. verfasserin aut Shah, Krati verfasserin aut Sheth, Jayesh verfasserin aut Hasan, Qurratulain verfasserin aut Sheth, Frenny verfasserin aut Agrawal, Pooja verfasserin aut Katragadda, Shanmukh verfasserin aut Veeramachaneni, Vamsi verfasserin aut Chandru, Vijay verfasserin aut Hariharan, Ramesh verfasserin aut Mannan, Ashraf U. verfasserin aut Enthalten in Journal of neurology [Darmstadt] : Steinkopff, 1891 266(2019), 8 vom: 08. Mai, Seite 1919-1926 (DE-627)242065155 (DE-600)1421299-7 1432-1459 nnns volume:266 year:2019 number:8 day:08 month:05 pages:1919-1926 https://dx.doi.org/10.1007/s00415-019-09358-1 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 266 2019 8 08 05 1919-1926
language	English
source	Enthalten in Journal of neurology 266(2019), 8 vom: 08. Mai, Seite 1919-1926 volume:266 year:2019 number:8 day:08 month:05 pages:1919-1926
sourceStr	Enthalten in Journal of neurology 266(2019), 8 vom: 08. Mai, Seite 1919-1926 volume:266 year:2019 number:8 day:08 month:05 pages:1919-1926
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Neurological disorders Genetic testing Next-generation sequencing Multi-gene panel
dewey-raw	610
isfreeaccess_bool	false
container_title	Journal of neurology
authorswithroles_txt_mv	Ganapathy, Aparna @@aut@@ Mishra, Avshesh @@aut@@ Soni, Megha Rani @@aut@@ Kumar, Priyanka @@aut@@ Sadagopan, Mukunth @@aut@@ Kanthi, Anil Vittal @@aut@@ Patric, Irene Rosetta Pia @@aut@@ George, Sobha @@aut@@ Sridharan, Aparajit @@aut@@ Thyagarajan, T. C. @@aut@@ Aswathy, S. L. @@aut@@ Vidya, H. K. @@aut@@ Chinnappa, Swathi M. @@aut@@ Nayanala, Swetha @@aut@@ Prakash, Manasa B. @@aut@@ Raghavendrachar, Vijayashree G. @@aut@@ Parulekar, Minothi @@aut@@ Gowda, Vykuntaraju K. @@aut@@ Nampoothiri, Sheela @@aut@@ Menon, Ramshekhar N. @@aut@@ Pachat, Divya @@aut@@ Udani, Vrajesh @@aut@@ Naik, Neeta @@aut@@ Kamate, Mahesh @@aut@@ Devi, A. Radha Rama @@aut@@ Mohammed Kunju, P. A. @@aut@@ Nair, Mohandas @@aut@@ Hegde, Anaita Udwadia @@aut@@ Kumar, M. Pradeep @@aut@@ Sundaram, Soumya @@aut@@ Tilak, Preetha @@aut@@ Puri, Ratna D. @@aut@@ Shah, Krati @@aut@@ Sheth, Jayesh @@aut@@ Hasan, Qurratulain @@aut@@ Sheth, Frenny @@aut@@ Agrawal, Pooja @@aut@@ Katragadda, Shanmukh @@aut@@ Veeramachaneni, Vamsi @@aut@@ Chandru, Vijay @@aut@@ Hariharan, Ramesh @@aut@@ Mannan, Ashraf U. @@aut@@
publishDateDaySort_date	2019-05-08T00:00:00Z
hierarchy_top_id	242065155
dewey-sort	3610
id	SPR005380537
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR005380537</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519070212.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201001s2019 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s00415-019-09358-1</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR005380537</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s00415-019-09358-1-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">ASE</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">ASE</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.90</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Ganapathy, Aparna</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2019</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. 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author	Ganapathy, Aparna
spellingShingle	Ganapathy, Aparna ddc 610 bkl 44.90 misc Neurological disorders misc Genetic testing misc Next-generation sequencing misc Multi-gene panel Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
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topic_title	610 ASE 44.90 bkl Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients Neurological disorders (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Multi-gene panel (dpeaa)DE-He213
topic	ddc 610 bkl 44.90 misc Neurological disorders misc Genetic testing misc Next-generation sequencing misc Multi-gene panel
topic_unstemmed	ddc 610 bkl 44.90 misc Neurological disorders misc Genetic testing misc Next-generation sequencing misc Multi-gene panel
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title	Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
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title_full	Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
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author_browse	Ganapathy, Aparna Mishra, Avshesh Soni, Megha Rani Kumar, Priyanka Sadagopan, Mukunth Kanthi, Anil Vittal Patric, Irene Rosetta Pia George, Sobha Sridharan, Aparajit Thyagarajan, T. C. Aswathy, S. L. Vidya, H. K. Chinnappa, Swathi M. Nayanala, Swetha Prakash, Manasa B. Raghavendrachar, Vijayashree G. Parulekar, Minothi Gowda, Vykuntaraju K. Nampoothiri, Sheela Menon, Ramshekhar N. Pachat, Divya Udani, Vrajesh Naik, Neeta Kamate, Mahesh Devi, A. Radha Rama Mohammed Kunju, P. A. Nair, Mohandas Hegde, Anaita Udwadia Kumar, M. Pradeep Sundaram, Soumya Tilak, Preetha Puri, Ratna D. Shah, Krati Sheth, Jayesh Hasan, Qurratulain Sheth, Frenny Agrawal, Pooja Katragadda, Shanmukh Veeramachaneni, Vamsi Chandru, Vijay Hariharan, Ramesh Mannan, Ashraf U.
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title_sort	multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 indian patients
title_auth	Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
abstract	Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner.
abstractGer	Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner.
abstract_unstemmed	Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner.
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title_short	Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
url	https://dx.doi.org/10.1007/s00415-019-09358-1
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author2	Mishra, Avshesh Soni, Megha Rani Kumar, Priyanka Sadagopan, Mukunth Kanthi, Anil Vittal Patric, Irene Rosetta Pia George, Sobha Sridharan, Aparajit Thyagarajan, T. C. Aswathy, S. L. Vidya, H. K. Chinnappa, Swathi M. Nayanala, Swetha Prakash, Manasa B. Raghavendrachar, Vijayashree G. Parulekar, Minothi Gowda, Vykuntaraju K. Nampoothiri, Sheela Menon, Ramshekhar N. Pachat, Divya Udani, Vrajesh Naik, Neeta Kamate, Mahesh Devi, A. Radha Rama Mohammed Kunju, P. A. Nair, Mohandas Hegde, Anaita Udwadia Kumar, M. Pradeep Sundaram, Soumya Tilak, Preetha Puri, Ratna D. Shah, Krati Sheth, Jayesh Hasan, Qurratulain Sheth, Frenny Agrawal, Pooja Katragadda, Shanmukh Veeramachaneni, Vamsi Chandru, Vijay Hariharan, Ramesh Mannan, Ashraf U.
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up_date	2024-07-03T15:55:57.309Z
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fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR005380537</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519070212.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201001s2019 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s00415-019-09358-1</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR005380537</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s00415-019-09358-1-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">ASE</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">ASE</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.90</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Ganapathy, Aparna</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2019</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. Results We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function. Conclusion In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Neurological disorders</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetic testing</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Next-generation sequencing</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Multi-gene panel</subfield><subfield code="7">(dpeaa)DE-He213</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Mishra, Avshesh</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Soni, Megha Rani</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Kumar, Priyanka</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sadagopan, Mukunth</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Kanthi, Anil Vittal</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Patric, Irene Rosetta Pia</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">George, Sobha</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sridharan, Aparajit</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Thyagarajan, T. 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Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

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