Pipecolic acid

Description / Indication

Peroxisomal defects, vitamin B6-responsive seizures due to a alpha-aminoadipic semialdehyde (alpha-ASA) dehydrogenase (antiquitin) deficiency. This metabolite is included in the metabolic epilepsy screening.

Method

UPLC-MS/MS

TAT

4 weeks

Price

€ 216

Test request form Metabolite diagnostics

Test request form Metabolite diagnostics.pdf
1.686 Kb
V6

Materials:

CSF

  • Amount: 500 µl.
  • Conditions: Dry ice.
  • Specifics: CSF sample protocol.

Plasma

  • Amount: 200 µl.
  • Conditions: Dry ice.
  • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.