Sponsored, no-charge genetic testing and counseling for individuals suspected of having a neurotransmitter disorder.

Order now

Sponsored, no-charge genetic testing and counseling for individuals suspected of having a neurotransmitter disorder.

Order now

Did you know?

To biochemically diagnose many neurotransmitter disorders, neurotransmitter and metabolite levels must be obtained by extracting cerebral spinal fluid (CSF). In such cases, molecular testing may help avoid a lumbar puncture and the associated risks for the patient.

About neurotransmitter disorders

  • The inborn errors of neurotransmission are a genetically heterogeneous set of conditions affecting the metabolism and transport of neurotransmitters.1,2,3

  • These disorders typically present in infancy or childhood, but later onset presentations have also been described.1,2

  • Treatments and clinical trials are available for some of these disorders so early diagnosis may help improve long term outcomes.4,5

  • Features can include developmental problems, hypotonia, early onset parkinsonism, dystonia, ataxia, autonomic dysfunction, oculogyric crises, behavior abnormalities, psychiatric disturbances, epilepsy, increased startle response, sleep disturbances, SIDS, and SUDEP (sudden unexplained death in epilepsy), and vary depending on the underlying disorder. In some disorders, diurnal fluctuation of symptoms may also be present.4

Program eligibility

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

Genetic testing with Invitae

The PTC Pinpoint Neurotransmitter Disorders program offers testing with the Invitae Neurotransmitter Disorders Panel.

The Invitae Neurotransmitter Disorders Panel analyzes up to 27 genes that are associated with disorders of monoamine metabolism, GABA metabolism, and neurotransmitter receptors and transporters.

Genetic counseling

Individuals tested through the PTC Pinpoint Neurotransmitter Disorders 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.

Patients can access genetic counseling by having their provider:

1. Complete the referral form
2. Attach the genetic test results to the referral form
3. Fax both the referral form and the genetic test results to GeneMatters at 612-808-5186

Patients will then be contacted by GeneMatters to schedule an appointment.

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

To place a paper-based order, download the paper order form and include it in the specimen box. 

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Next steps and additional services

Broaden your search with re-requisition

If you don’t find answers with your initial order, PTC Pinpoint™ Neurotransmitter Disorders program includes one re-requisition within 90 days to genes within the original clinical area.

Simply log into your account, navigate to the order, and click "Add rerequisition”

Family variant testing for familial insights

If a positive result is identified, testing for your patient’s family members is available.

Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. The partner code will automatically be added with the order.

About Invitae

Invitae Corporation is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices.

About PTC Therapeutics

PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. To learn more about PTC, please visit us at www.ptcbio.com and follow us on Facebook, on Twitter at @PTCBio, and on LinkedIn. PTC Pinpoint is a registered trademark of PTC Therapeutics.

While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling is available in the US and Canada only. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any other products or services from Invitae or from third parties or commercial organizations. 

References:

  1. Ng J, Papandreou A, Heales SJ, Kurian MA. Monoamine neurotransmitter disorders--clinical advances and future perspectives. Nat Rev Neurol. 2015 Oct;11(10):567-84. doi: 10.1038/nrneurol.2015.172. Epub 2015 Sep 22. PMID: 26392380.
  2. Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza- Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou L. Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. Orphanet J Rare Dis. 2015 Feb 8;10:12. doi: 10.1186/s13023-015-0234-9. PMID: 25758715; PMCID: PMC4342151. 
  3. García-Cazorla A, Artuch R, Gibson KM. Inborn metabolic diseases: di agnosis and treatment. 6th ed. Heidelberg: Springer; 2016. Chapter 29, Disorders of Neurotransmission; p. 415–427. 
  4. Ng J, Heales SJ, Kurian MA. Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders. Paediatr Drugs. 2014 Aug;16(4):275-91. doi: 10.1007 s40272-014-0079-z. PMID: 25011953; PMCID: PMC4102824.  
  5. Kurian MA, Gissen P, Smith M, Heales S Jr, Clayton PT. The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol. 2011 Aug;10(8):721-33. doi: 10.1016/S1474-4422(11)70141-7. PMID: 21777827.