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.

Testing Eligibility

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
  • Myoclonus
  • Tremor

Testing Exclusions

  • 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
81-gene focused panel

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

request

Step 1: Request a Test Kit

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Step 2: Complete a Test Requisition Form (TRF)

Complete the Test Requisition Form provided with the kit or download a form to complete.

submit-package

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.

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Step 4: Receive Results

Your patient’s results will be sent to the ordering healthcare provider within 2-4 weeks.

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Questions? Contact Us

Contact

bd@ambrygen.com