Molecular and Genetic Medicine

Department of Clinical Genetics, Kovai Medical Center Hospital, Coimbatore, Tamil Nadu, India

Publications

• Short Communication   
  Exome Study in Clinical Diagnosis at a Tertiary Care Hospital in South India
  Author(s): Amith Kumar IV*
  
  Aim: To understand the genetic disease spectrum in a hospital setting using exome analysis by NGS technology. Methods: We have applied clinical exome studies in our patient groups who presented for a year from 1st April 2017 to 31st March 2018. The data were from all patients from the hospital records irrespective of age and sex from any background who were either referred to or had a direct OPD walk in to the genetic clinic. Those patients who had a suspected family history of a genetic disease were included for testing. The test was applied only in cases if there was a definitive phenotypic evidence of the condition. The patients were included irrespective of a specialty of referral. Results: Among a total of 171 families who sought clinical consultation, exome analysis were .. Read More»
  

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