Specimens: | 2000 µl Serum, frozen (s) |
includes following tests: | Behenic acid (C22:0) (GC-MS) (s) (Serum, frozen (s)) Lignoceric acid (C24:0) (GC-MS) (s) (Serum, frozen (s)) Cerotic acid (C26:0) (GC-MS) (s) (Serum, frozen (s)) |
Preanalytics/Notes: | Serum, send in deep-frozen If, possible sample should be collected before breakfast after an overnight fast. |
Method: | Gas chromatography-mass spectrometry |
Set-up: | on demand |
Turnaround Time: | 3 days |
Indication/Significance: | Medical clarification of inborn metabolic diseases affecting peroxisomal function and biogenesis. Clinical symptoms are:
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Interpretation: |
Increased or decreased more… Increased or decreased very long chained fatty acids may indicate an disorder of peroxisomal function and biogenesis, e.g. zellweger syndrome spectrum, adrenoleukodystrophia. Clinical data are relevant for interpretation of the results. |
in-house development