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PTC Therapeutics Launches the PTC Pinpoint Direct™ Program for Patient-Initiated Genetic Testing
- Provides easier access to genetic testing for patients with symptoms or diagnosis of cerebral palsy at no charge - SOUTH PLAINFIELD, N.J., April 14, 2021
About this update from Ptc Therapeutics, Inc.
[{"type":"text","content":"- Provides easier access to genetic testing for patients with symptoms or diagnosis of cerebral palsy at no charge -\n\n\nSOUTH PLAINFIELD, N.J., April 14, 2021 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today introduced a new no-charge, patient-initiated testing program in the United States for individuals who have symptoms consistent with, or a diagnosis of, cerebral palsy (CP) with no evidence of brain injury. \nCP is a group of disorders that affect a person's ability to move and maintain balance and posture. Many of the common symptoms of CP are similar to other neurotransmitter disorders, such as Aromatic L-amino Acid Decarboxylase (AADC) deficiency, resulting in potential misdiagnosis. The program, PTC Pinpoint Direct™-CP Spectrum, is an innovative, genetic testing program which includes expert genetic counseling at no charge for eligible patients.\n\"An umbrella diagnosis of a neurotransmitter disorder, such as cerebral palsy, can be extremely frustrating, especially for patients and caregivers who spend years with unexplained and underlying symptoms,\" said Kylie O'Keefe, Senior Vice President, Global Commercial and Corporate Strategy, PTC Therapeutics. \"Up to one-third of cerebral palsy cases are driven by a genetic disorder, and some of those conditions may have transformative treatments currently available. We are excited to launch this new extension of our existing program, PTC PINPOINT, to further eliminate the barriers of genetic testing for rare diseases.\"\nPTC Pinpoint Direct™-CP Spectrum will be available at no charge to patients of all ages in the United States who have symptoms consistent with, or a diagnosis of, CP without evidence of brain injury. Testing with PTC Pinpoint Direct™-CP Spectrum may help uncover a genetic cause of the symptoms and determine the right plan for the patient's care, including new and emerging treatment options. PTC Pinpoint Direct™-CP Spectrum may also eliminate unnecessary treatments or medications that may cause complications.\nThe program is sponsored by PTC Therapeutics and is the first collaboration between PTC, Genome Medical for expert genetic counseling and administration, and Invitae for industry-leading genetic testing. Caregivers and patients may initiate the testing process from PTC Pinpoint Direct online and receive information on eligibility requirements...