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

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:

  • neurological symptoms (hypotonia, encephalopathy, seizures, deafness,...)
  • skeletal anomalies
  • signs of dysmorphia (high forehead, flat nasal root, very large fontanel,...)
  • hepatic dysfunction
Interpretation:

in-house development

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