Diagnostics

The NABL (National Accreditation Board of Laboratories) accredited Metabolic Diagnostics Division of Sandor is specialized in diagnosis of Inborn Errors of Metabolism (IEM) with a comprehensive testing menu. IEM is a group of disorders in which a gene defect causes clinically significant block in a metabolic pathway that result either in toxic accumulation of a substrate or deficiency of an essential metabolite affecting normal growth and development of an individual. Early and reliable diagnosis of an IEM is crucial for instigation of therapy as well as appropriate patient management.

The laboratory established with technical guidance from global experts in IEM diagnosis is equipped with ‘gold standard’ techniques for metabolite and enzyme analyses. Protocols are adapted from the international collaborators and diagnosis procedures are being monitored by internationally trained Scientists. With a desire to be on-par with global standards with assured quality, the lab undertakes strict quality control measures and participates in External Quality Assurance Programs offered by ERNDIM.

Metabolite Profiling: Qualitative and quantitative analysis of metabolites in urine, plasma and cerebrospinal fluid by Ion exchange chromatography electrophoresis, and Gas Chromatography-Mass Spectroscopy.

Enzyme Activity Assay: Diagnosis of Lysosomal Storage Disorders by enzyme activity assays.