Very long chain fatty acids (Serum, frozen (s))

Specimens:	2000 µl Serum, frozen (s)
includes following tests:	Phytanic acid (Serum, frozen (s)) Pristanic acid (Serum, frozen (s)) C24/C22 Ratio (GC-MS) (s) (Serum, frozen (s)) C26/C22 Ratio (GC-MS) (s) (Serum, frozen (s)) 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
Duration:	10 days
Indication/Significance:	Medical clarification of inborn metabolic diseases affecting peroxisomal function and biogenesis. Clinical symptoms are: neurological symptoms (hypotonia, encephalopathy, seizures, deafness,...) skeletal anomalies signs of dysmorphia (high forehead, flat nasal root, very large fontanel,...) hepatic dysfunction
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. close

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