Diagnostic Overview – Helse Bergen HF, Haukeland University Hospital
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| No information was provided | |
Available molecular techniques: No information was provided
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Fatty Acid Oxidation (FAO Disorders) | |||
| Lysosomal Storage Disorders (LSD) | |||
| Peroxisomal Disorders (PD) | |||
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |||
| Disorders of Neuromodulators and other small Molecules (NOMS) | |||
| Urine | Porphyrins and porphyrin precursors, | ||
| U-Copper (24h) | |||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
2. Basic metabolite and enzyme testing
| Department of Medical Biochemistry and Pharmacology, Seksjon for porfyrianalyser | https://www.med.uio.no/klinmed/english/about/organization/divisions/laboratory-medicine/medical-biochemistry/ |
| Contact person Alexander Blø | porfyri@helse-bergen.no |
Metabolite Tests |
|
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Lysosomal Storage Disorders (LSD) | |
| Peroxisomal Disorders (PD) | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine
|
Porphyrins and porphyrin precursors |
| U-Copper (24h)
Plasma Protoporphyrin |
|
| Plasma | Porphyrins |
| Faeces | Porphyrins |
| Erythrocytes | Protoporphyrin |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
Enzyme Tests |
|
| Type of Disease | Yes or No |
| Amino and organic acids disorders (AOA) | |
| – | – |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| – | – |
| Lysosomal Storage Disorders (LSD) | |
| – | – |
| Peroxisomal Disorders (PD) | |
| – | – |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| – | – |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Porphyrias | Yes |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| – | – |
Copyright ©2017-2021 all rights reserved