Case series: Three cases emphasizing importance of genetics in PICU

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Journal of Pediatric Critical Care 2021-05, Vol.8 (3), p.153-156
Hauptverfasser: Dwivedi, Aradhana, Simalti, Ashish Kumar, Goswami, Jyotindra Narayan, Kalra, Suprita, Negi, Vandana
Format: Artikel
Sprache:eng
Schlagworte:
exome sequencing
genetic tests
geneticist
pediatric intensive care units
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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.
ISSN:2349-6592
2455-7099
DOI:10.4103/jpcc.jpcc_174_20