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 suspected early onset 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 suspected early onset 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
AARS, ABAT, ADCY5, ALDH5A1, ALDH7A1, AMT, AP1S2, ARHGEF9, ATP1A2, ATP1A3, ATP7B, BCKDHA, BCKDHB, COASY, DBT, DDC, DDX3X, DLD, DNAJC12, DNM1, EIF2AK2, ELP2, GAMT, GCDH, GCH1, GLDC, GLRA1, GLRB, GNAO1, GNB1, HPRT1, KCNB1, KCNMA1, KMT2B, MECR, MYBPC1, NBEA, NGLY1, NTNG2, PANK2, PCCA, PCCB, PDE10A, PGAP1, PLA2G6, PNKD, PNPO, PNPT1, PRRT2, PTS, QDPR, RHOBTB2, SCN2A, SCN8A, SERAC1, SGCE, SLC16A2, SLC17A5, SLC18A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SPR, SYT1, TET3, TH, TNR, TOR1A, TUBB4A, UBTF, VAC14, VAMP2, VPS13D, WARS2, WDR45, WDR73, YIF1B
How The Program Works
Step 2: Complete a Test Requisition Form (TRF)
Complete the Test Requisition Form provided with the kit or download a form to complete.
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