Providing Answers at No Cost to Patients
PTC Therapeutics is partnering with Ambry Genetics to provide a no-cost genetic testing program for patients who have a clinical history involving congenital hypotonia and specific types of movement disorders. Patients who are eligible for this program may have an underlying genetic cause of their complications, such as aromatic L-amino acid decarboxylase (AADC) deficiency.
Both congenital hypotonia AND one of the following movement disorders must be observed:
- Dystonia (facial, torso, or limb)
- Dyskinesia (hyperkinesia, chorea, athetosis)
- Oculogyric crises/paroxysmal movements
- Hypokinesia or bradykinesia
- Patient had CSF neurotransmitter test with normal results
- Patient had whole exome sequencing performed
- Patient had sequencing panel or single gene test containing DDC gene
How The Program Works
Step 1: Request a Test Kit
Step 3: Collect a Sample and Submit a Kit for DNA Analysis
Collect the patient’s blood or saliva sample. Submit the kit with the completed Test Requisition Form using the mailing instructions provided.
Step 4: Receive Results
Your patient’s results will be sent to the ordering healthcare provider within 2-4 weeks.
Questions? Contact Us