Case series: Three cases emphasizing importance of genetics in PICU
Individual genetic disorders are rare but cumulative prevalence of these disorders is high. Genetic diagnostic armamentarium has expanded with introduction of next generation sequencing techniques. A qualified geneticist can be of invaluable help in applying suitable genetic test and analyzing the r...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2021-01-01
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| Series: | Journal of Pediatric Critical Care |
| Subjects: | |
| Online Access: | http://www.jpcc.org.in/article.asp?issn=2349-6592;year=2021;volume=8;issue=3;spage=153;epage=156;aulast=Dwivedi |
| _version_ | 1818646815783780352 |
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| author | Aradhana Dwivedi Ashish Kumar Simalti Jyotindra Narayan Goswami Suprita Kalra Vandana Negi |
| author_facet | Aradhana Dwivedi Ashish Kumar Simalti Jyotindra Narayan Goswami Suprita Kalra Vandana Negi |
| author_sort | Aradhana Dwivedi |
| collection | DOAJ |
| description | Individual genetic disorders are rare but cumulative prevalence of these disorders is high. Genetic diagnostic armamentarium has expanded with introduction of next generation sequencing techniques. A qualified geneticist can be of invaluable help in applying suitable genetic test and analyzing the results. We present 3 cases highlighting how involving qualified geneticist in daily round can help in detecting rare disorder even when clinical picture is not suggestive of a genetic disorder. |
| first_indexed | 2024-12-17T00:52:38Z |
| format | Article |
| id | doaj.art-e1dad6158c4948e4ad67e19a3672b360 |
| institution | Directory Open Access Journal |
| issn | 2349-6592 2455-7099 |
| language | English |
| last_indexed | 2024-12-17T00:52:38Z |
| publishDate | 2021-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Pediatric Critical Care |
| spelling | doaj.art-e1dad6158c4948e4ad67e19a3672b3602022-12-21T22:09:44ZengWolters Kluwer Medknow PublicationsJournal of Pediatric Critical Care2349-65922455-70992021-01-018315315610.4103/jpcc.jpcc_174_20Case series: Three cases emphasizing importance of genetics in PICUAradhana DwivediAshish Kumar SimaltiJyotindra Narayan GoswamiSuprita KalraVandana NegiIndividual genetic disorders are rare but cumulative prevalence of these disorders is high. Genetic diagnostic armamentarium has expanded with introduction of next generation sequencing techniques. A qualified geneticist can be of invaluable help in applying suitable genetic test and analyzing the results. We present 3 cases highlighting how involving qualified geneticist in daily round can help in detecting rare disorder even when clinical picture is not suggestive of a genetic disorder.http://www.jpcc.org.in/article.asp?issn=2349-6592;year=2021;volume=8;issue=3;spage=153;epage=156;aulast=Dwivediexome sequencinggenetic testsgeneticistpediatric intensive care units |
| spellingShingle | Aradhana Dwivedi Ashish Kumar Simalti Jyotindra Narayan Goswami Suprita Kalra Vandana Negi Case series: Three cases emphasizing importance of genetics in PICU Journal of Pediatric Critical Care exome sequencing genetic tests geneticist pediatric intensive care units |
| title | Case series: Three cases emphasizing importance of genetics in PICU |
| title_full | Case series: Three cases emphasizing importance of genetics in PICU |
| title_fullStr | Case series: Three cases emphasizing importance of genetics in PICU |
| title_full_unstemmed | Case series: Three cases emphasizing importance of genetics in PICU |
| title_short | Case series: Three cases emphasizing importance of genetics in PICU |
| title_sort | case series three cases emphasizing importance of genetics in picu |
| topic | exome sequencing genetic tests geneticist pediatric intensive care units |
| url | http://www.jpcc.org.in/article.asp?issn=2349-6592;year=2021;volume=8;issue=3;spage=153;epage=156;aulast=Dwivedi |
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