Sponsored, no-charge genetic testing and counseling for individuals with symptoms suggestive of cerebral palsy (CP) in the absence of risk factors for an acquired brain injury.

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3Signs and symptoms that are suggestive of an underlying genetic etiology for CP include: 

  • No documented perinatal risk for brain injury

  • Full term birth

  • Brain MRI that is normal or inconsistent with acquired brain injury

  • Onset of abnormal motor symptoms after a period of normal development 

  • Progressive neurologic symptoms

  • Fluctuation of muscle tone or motor symptoms 

  • Worsening of neurologic symptoms with fever and/or illness 

  • Hypotonia as an isolated symptom 

  • Ataxia as a prominent feature 

  • Evidence of peripheral neuromuscular disease 

  • Abnormal eye movements 

  • Family history of similarly affected individuals

About Cerebral Palsy Disorders

  • CP is the most common cause of motor disability in children with an estimated incidence of 2 to 3 per 1,000 live births in the U.S.1,2

  • The term cerebral palsy represents a heterogeneous group of neurodevelopmental conditions characterized by impairment of movement, posture, and motor function2 with an onset of symptoms typically before 2 years of age.3

  • Recent studies have shown that an underlying genetic etiology can be determined in 20-65% of CP patients, depending on the cohort tested.4,5

  • Identifying an underlying genetic etiology for CP may impact clinical management and help reveal specific disease-modifying treatment.5

Program eligibility

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

Genetic testing with Invitae

The PTC Pinpoint™ CP Spectrum program offers testing with the The Invitae Cerebral Palsy Spectrum Disorders Panel, which analyzes a broad panel of 265 genes to determine the underlying etiology of cerebral palsy.

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Genetic counseling

Individuals tested through the PTC Pinpoint™ CP Spectrum 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.

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REFERRAL FORM

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™ CP Spectrum 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”

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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.

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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 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. Lee RW, Poretti A, Cohen JS, et al. A diagnostic approach for cerebral palsy in the genomic era. Neuromolecular Med. 2014;16(4):821-844. doi:10.1007/s12017-014-8331-9. 
  2. van Eyk CL, Corbett MA, Maclennan AH. The emerging genetic landscape of cerebral palsy. Handb Clin Neurol. 2018;147:331-342. doi:10.1016/B978-0-444-63233-3.00022-1. 
  3. Pearson TS, Pons R, Ghaoui R, Sue CM. Genetic mimics of cerebral palsy. Mov Disord. 2019;34(5):625-636. doi:10.1002/mds.27655. 
  4. Zarrei M, Fehlings DL, Mawjee K, et al. De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 2018 Feb;20(2):172-180. DOI: 10.1038/gim.2017.83.  
  5. Matthews AM, Blydt-Hansen I, Al-Jabri B, et al. Atypical cerebral palsy: genomics analysis enables precision medicine. Genet Med. 2019;21(7):1621-1628. doi:10.1038/s41436-018-0376-y.