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.

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

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

  • 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.

Program eligibility

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

Genetic testing with Invitae

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

The Invitae Neurotransmitter Disorders Panel analyzes up to 37 genes that are associated with disorders of monoamine metabolism, GABA metabolism, and neurotransmitter receptors and transporters.

Genetic counseling

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.

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.

Family follow-up testing

Invitae offers family variant testing for all blood relatives of patients who undergo testing at Invitae and are found to have a pathogenic or likely pathogenic variant. Our family variant testing reports on the variant(s) that was identified in the original family member, as well as any other pathogenic variant(s) found in the full gene.

If your patient tests positive through the PTC Pinpoint program, all of his or her blood relatives are eligible for family variant testing.

Ordering made easy

Place your order

To place a paper-based order, download the paper order form.

To place an order online:

  1. Sign up for an account and start a new order

  2. Under Test Selection, click on the Partnership Programs tab and enter PTC in the Invitae Partner Code field

  3. Use the search bar to find and select the Invitae Neurotransmitter Disorders Panel.

  4. Fill in the required patient information

  5. Under Billing Information, select Institutional Billing and leave all fields blank

  6. Complete the Order Authorization section and submit the order

Fill out, print, and sign the eligibility criteria form, which includes a required physician consent, and include it with the specimen.

Collect a sample

To collect a specimen:

  1. Order a specimen collection kit

  2. Collect the specimen and ship it back to Invitae

  3. Include the signed eligibility criteria form with the specimen

For additional information, please see specimen and shipping requirements.

Results

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10-21 calendar days, on average

  2. If you created an online account, you can view the status of your order by logging into your account

  3. You will receive a notification email once the test results are ready

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