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Neurotransmitter Disorders program†

The PTC Pinpoint™ Program offers testing with the Invitae Neurotransmitter Disorders Panel, which analyzes up to 45 genes that are associated with disorders of monoamine metabolism, GABA metabolism, and neurotransmitter receptors and transporters.

Order a PTC Pinpoint Neurotransmitter Disorders test

Learn more about the Neurotransmitter Disorders program

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  • This program is available to eligible patients in the US and Canada who are suspected of having, or have clinical symptoms consistent with, a neurotransmitter disorder.

Additional no-cost testing supported by PTC Therapeutics

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, a LabCorp company. 

  • In patients with Aromatic L-amino Acid Decarboxylase (AADC) deficiency, the neurotransmitter metabolite 3-OMD is elevated in plasma3-5

If 3-OMD is elevated3

then

Reflex diagnostic tests will be conducted, including AADC enzyme activity analysis and DDC gene sequencing3

Why test for 3-OMD?

Typically, the diagnosis of AADC deficiency requires cerebrospinal fluid (CSF) neurotransmitter analysis.

However, 3-OMD, a catabolic product of L-dopa that accumulates in individuals with AADC deficiency, can be detected in their blood.6

WATCH: Why screen for levels of 3-OMD in the blood of patients suspected of having AADC deficiency?

Keith Hyland, PhD, explains what 3-OMD is and why physicians should screen for it in patients who may have AADC deficiency

3-OMD=3-O-methyldopa; GABA=gamma-aminobutyric acid.

AADC Deficiency Diagnostic Laboratory Partnership

In a less invasive testing option, blood is collected and shipped to MNG Laboratories to measure 3-OMD levels in the plasma.

Click here to order a testing kit

Questions about any of these testing options?

For more information, email: AADCDtesting@ptcbio.com

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Take a closer look at the diagnostic process for a few patients

References: 1. Pons R, Ford B, Chiriboga CA, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004;62(7):1058-1065. 2. Himmelreich N, Montioli R, Bertoldi M, et al. Aromatic amino acid decarboxylase deficiency: molecular and metabolic basis and therapeutic outlook. Mol Genet Metab. 2019;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. 3. Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12. doi: 10.1186/s13023-016-0522-z. 4. Brun L, Ngu LH, Keng WT, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010;75(1):64-71. 5. Hwu W-L, Lee N-C, Chien Y-H, et al. AADC deficiency: occurring in humans, modeled in rodents. Adv Pharmacol. 2013;68:273-284. 6. Chen P-W, Lee N-C, Chien Y-H, et al. Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots. Clin Chim Acta. 2014;431:19-22.