Ichtyosis is a symptom of the Refsum disease, has high level phytanic acid. I want measure of phytanic acid levels in ichtyosis patients.
Hello, I hope this will help you.
thank you zohara this helped me.
You could do it by different methods:
• Culture of fibroblasts: It allows the diagnosis of the carriers.
• Amniocentesis.
• Blood
• Nerve biopsy.
• Metabolic tests in urine and blood.
• Gas Chromatography-Mass Spectrometry.
In case of choosing:
Gas chromatography / mass spectrometry. The sample can be
Serum or plasma (heparin or EDTA), without hemolysis, fasted.
Minimum amount: 1.5 mL of blood or 0.6 mL of serum or plasma.
Stability: 4oC: 1 week. Less 20oC: one year
thank you juan
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