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Supra-Regional Assay Service

Centres for Analysis and Clinical Interpretation

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  2. Specialities
  3. Metabolism
  4. Porphyrins

Porphyrins

Porphyrias are uncommon disorders of haem biosynthesis. At least eight very different disorders can be defined. Symptoms are often non-specific. Assays are available for porphyrins and precursors. Measuring activities of enzymes in cells and DNA mutation analysis are useful for confirmation and family studies.

Centres:

  • Cardiff UHW Porphyria Diagnostic Service
  • King’s College Hospital Porphyria Service

Assays:

  • Alphabetical list of those available
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