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.
Why is Genetic Testing Important?
Patients with movement disorders and early onset hypotonia often undergo a long diagnostic odyssey. For patients and families, this journey to an accurate diagnosis can be long and costly. PTC Therapeutics is supporting no-cost genetic testing through Ambry Genetics to help facilitate early diagnosis which can help optimize disease management.
What is the Movement Disorders + Hypotonia Panel?
Ambry Genetics’ Movement Disorders + Hypotonia Panel is an 81-gene focused panel aimed at identifying the underlying genetic cause of movement disorder and suspected early onset hypotonia in eligible patients. This includes disorders such as aromatic L-amino acid decarboxylase (AADC) deficiency or other clinically overlapping conditions. Genes included are associated with one or more key clinical symptoms including suspected early onset hypotonia and movement disorder. Establishing an underlying molecular cause is a critical step in providing accurate diagnosis, prognosis, genetic counseling, and disease management.
Testing Eligibility
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
- Myoclonus
- Tremor
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 1: Request a Test Kit
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
Contact
bd@ambrygen.com