Work toward a potential diagnosis with just a simple blood test
PTC Therapeutics is supporting no-cost AADC Deficiency testing through a partnership with MNG Laboratories.
- In patients with Aromatic L-amino Acid Decarboxylase (AADC) Deficiency, the neurotransmitter metabolite 3-OMD is elevated in the plasma1-3
If 3-OMD is elevated1
Reflex diagnostic tests will be conducted, including AADC enzyme activity analysis and DDC gene sequencing1
Why test for 3-OMD?
Typically, the diagnosis of AADC Deficiency requires cerebrospinal fluid (CSF) neurotransmitter analysis.
However, 3-OMD, which is a catabolic product of L-dopa that accumulates in individuals with AADC Deficiency, can be detected in their blood.4
Adapted from Wassenberg 2017.2
3-OMD=3-O-methyldopa; 5-HIAA=5-hydroxyindoleacetic acid; 5-HTP=5-hydroxytryptophan; HVA=homovanillic acid; L-dopa=L-3,4-dihydroxyphenylalanine; VLA=vanillactic acid.
AADC Deficiency Diagnostic Laboratory Partnership
Order your testing kit atwww.mnglabs.com/ptc-kit-orders
|MNG Laboratories (Atlanta, GA)|
|Tests offered||3-OMD (plasma); if 3-OMD is elevated, DDC gene sequencing and AADC enzyme activity (plasma)|
What’s required for testing?
- All testing and shipping materials are included in the kit
- A minimum of 3 mL of blood is needed, but 4-5 mL is preferred
- Whole blood can be shipped in an EDTA purple top collection tube at room temperature
- Results can be expected within 10 to 14 days
How it works
Blood is collected and shipped to MNG Laboratories to measure 3-OMD levels in the plasma
If 3-OMD is elevated in the plasma, additional testing is conducted to confirm a diagnosis of AADC Deficiency:
- DDC full gene sequencing
- Plasma AADC enzyme activity assay
For more information, email:
What are the signs of AADC deficiency?
Discover the signs and symptoms that distinguish AADC Deficiency from other disorders.AADC Deficiency Symptoms