Indian Pediatrics

, Volume 56, Issue 9, pp 757–766 | Cite as

Testing Modalities for Inborn Errors of Metabolism — What a Clinician Needs to Know?

  • Sunita Bijarnia-MahayEmail author
  • Seema Kapoor
Rational Diagnostics


The present century is being hailed as the century for genetic therapies, and inborn errors of metabolism is leading the way. As we gear ourselves for treating children with genetic and metabolic disorders, the key is to recognize them early and accurately for best outcomes. In these changing times with advent of technology, clinicians are now more aware, exposed and well equipped with the armamentarium of diagnostic modalities. However, it is difficult to choose between the tests without a baseline knowledge about testing for genetic and metabolic disorders. The key question for a clinician when dealing with a suspected metabolic disorder case is ‘what test to order’ and ‘how to proceed.’ The current article provides a rational view on the various laboratory testing modalities available for diagnosis of inborn errors of metabolism. The article provides details of the basic and advanced metabolic tests that can be ordered in appropriate settings.


Diagnosis Genetics Metabolic disorders Tandem mass spectrometry 


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Copyright information

© Indian Academy of Pediatrics 2019

Authors and Affiliations

  1. 1.Sir Ganga Ram HospitalInstitute of Medical Genetics and GenomicsRajinder Nagar, New DelhiIndia
  2. 2.Division of Genetics, Department of PediatricsMaulana Azad Medical College and associated Lok Nayak HospitalNew DelhiIndia

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