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No-cost genetic testing program

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Because prompt diagnosis can help improve the care and management of patients with AADC deficiency and other neurotransmitter disorders,1,2 PTC Therapeutics and Invitae have partnered to offer no-cost genetic testing, genetic counseling, and family screening programs for individuals with a suspected neurotransmitter disorder, such as AADC deficiency or cerebral palsy (CP) of unknown etiology.

The PTC Pinpoint partnership is designed to provide information to healthcare providers that can aid in a differential diagnosis. The goal of this program is to test for information about genetic variants that can hasten a diagnosis and give insight into the appropriate course of action for families and their children.

CP Spectrum program*

The CP Spectrum program breaks down many barriers to genetic testing for CP. Through PTC Pinpoint™, individuals with symptoms suggestive of CP without evidence for acquired brain injury have access to no-charge genetic testing and counseling. The program analyzes 265 genes and may help to identify an underlying etiology, such as AADC deficiency, which may be amenable to specific medical management or treatment options.

Order a PTC Pinpoint CP Spectrum test

Learn more about the CP Spectrum program

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  • This program is available in the US and Canada for individuals with symptoms suggestive of cerebral palsy in the absence of risk factors for an acquired brain injury.

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.

Genetic counseling and family follow-up testing

Support for understanding and navigating genetic testing is the best way to empower families to make informed decisions about their children’s and their own health and care. As an additional resource to offer your patients, individuals tested through the PTC Pinpoint program are eligible for post test genetic counseling to help them understand their test results. This service is provided through GeneMatters™, a third-party genetic counseling service, and is made available by Invitae at no charge as part of the program.

If a patient is found to have a pathogenic variant through the PTC Pinpoint program, all of their blood relatives are eligible for family variant testing.

For more information or to order a PTC Pinpoint test, download this guide

Download the guide

PTC Pinpoint Direct

Caregivers can initiate genetic testing for their child with an at-home collection sample through PTC Pinpoint Direct. This program is designed to help uncover the underlying cause of CP with unknown etiology and is available at no cost to eligible patients. The patient’s physician will receive a clinical action plan so they can integrate the results into the patient’s medical care.

Explore PTC Pinpoint Direct

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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


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?

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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.