Gas Chromatography/Mass Spectrometry (GC/MS)

The inherited metabolic disorders (IMD) laboratory in the department of Newborn Screening & Biochemical Genetics (NSBG) at Birmingham Children's Hospital, part of the Birmingham Women's and Children's NHS Foundation Trust, is the West Midlands regional NHS clinical pathology laboratory for the screening, diagnosis and monitoring of IMDs. IMDs are serious conditions that are individually rare but cumulatively common. The laboratory instrument inventory includes a single GCMS instrument on which the service is reliant for the provision of a range of specialist tests that includes: - Qualitative/semi-quantitative (targeted spectral library screening) analysis of urine organic acids (TMS derivatives) - Quantitative (stable isotope dilution) analysis of plasma very long chain fatty acids (methylester derivatives), plasma sterols and selected plasma/urine organic acids (TMS derivatives) The Trust has capital funding to replace its current GCMS by the end of March 2021.

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