Aromatic-L-amino acid decarboxylase (AADC) *

Disease

AADC deficiency.

Description

Aromatic amino acid decarboxylase (AADC) catalyzes the conversion of dopa and 5-hydroxytryptophan in dopamine and serotonin, respectively. A defect is leads to biogenic amine neurotransmitter deficiency.

OMIM

608643

Method

HPLC-Fluorescence

Price

€ 425

Materials:


Plasma

  • Conditions: Dry ice.
  • Specifics: 200 µl plasma from EDTA blood of the patient should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes, stored at -80°C and subsequently shipped on dry ice. Isolation of plasma should occur preferably within 15 minutes after obtaining the EDTA blood sample. Please complete the test request form and send it along with the sample.
  • TAT: 3 weeks.

* Note: This test is not covered by the ISO15189 accreditation of the laboratory.