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