PTC Therapeutics Inc introduces PTC Pinpoint Direct-CP Spectrum, a 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.

The genetic testing program also includes free genetic counseling for eligible patients, according to the South Plainfield, NJ-based company in a news release.

“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. 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.”

— Kylie O’Keefe, Senior Vice President, Global Commercial and Corporate Strategy, PTC Therapeutics

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.

The program is sponsored by PTC Therapeutics in collaboration with Genome Medical for genetic counseling and administration, and Invitae for genetic testing.

To initiate the testing process and receive information on eligibility requirements, visit PTC Therapeutics Inc.

[Source(s): PTC Therapeutics Inc, PR Newswire]

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