Fast Facts - Genetic Testing for Cardiovascular Disorders

PATHCHAT Edition
Published: June 2023
Please contact your local Ampath pathologist for more information.

The Role of Genetic Testing in Cardiovascular Disorders

✅ Why Consider Genetic Testing?

• Provides insights into inherited cardiovascular conditions.
• Helps with diagnosis, prognosis, and treatment decisions.
• Facilitates family screening and reproductive planning.
• Identifies individuals at risk for developing inherited heart diseases.

📌 Genetic testing supports precision medicine in cardiology by enabling tailored interventions and preventive strategies.

Local Genetic Testing Services at Ampath

✅ Available Tests and Panels
✔ Familial Hypercholesterolemia (FH) Panel

• Mnemonic: FHNGS
• Detects mutations linked to inherited high cholesterol and premature cardiovascular disease.

✔ Pharmacogenomics Panel

• Mnemonic: PHARMA
• Guides drug selection and dosing for cardiovascular medications.

✔ Marfanoid Syndromes/Aortopathies (15-Gene Panel)

• Mnemonic: MARFAN
• Identifies mutations associated with Marfan syndrome and related aortopathies.

📌 Local genetic testing provides rapid and cost-effective options for selected cardiovascular conditions.

Overseas Genetic Testing Services

✅ Specialized Genetic Panels for Cardiomyopathies and Arrhythmias

• Some inherited heart conditions require advanced NGS testing unavailable locally.
• Ampath facilitates genetic testing through Invitae Laboratories (USA).

✅ Process for Overseas Testing

1. Handling Fee: R1372 (Billed by Ampath).
2. Testing Cost: $349 (Paid directly by the patient to Invitae via an online link).
3. Required Documentation:
   • Completed Invitae consent form (signed by the patient).
   • Ampath requisition form (select NGCF), including:
     • Clinical information (phenotype, family history, suspected diagnosis).
     • Specific genetic panel requested.
4. Sample Collection:
   • Two EDTA blood tubes drawn at Ampath.
5. Turnaround Time: ~4 weeks (Report emailed to the clinician).
6. Medical Aid Coverage: Not covered by medical aids.

📌 Overseas genetic testing expands diagnostic possibilities for complex inherited heart disorders.

Genetic Counselling for Cardiovascular Disorders

✅ Why is Genetic Counselling Important?

• Pre-test counselling ensures patients understand:
  • The purpose and benefits of genetic testing.
  • Possible results and their implications.
  • The testing process and limitations.
• Post-test counselling includes:
  • Explanation of results.
  • Risk assessment for family members.
  • Recommendations for further testing in at-risk relatives.

✅ Genetic Counselling Services at Ampath

• Face-to-face and remote counselling available.
• Appointments can be scheduled via:
  • Phone: 012 678 0645.
  • Email: geneticsclinic@ampath.co.za.

📌 Genetic counselling ensures informed decision-making and appropriate follow-up for patients and families.

Contact Information

✅ Ampath Genetic Counselling Clinic

• Clinical Geneticist:
  • Dr. Lindsay Lambie (012 678 0645).
• Genetic Counsellors:
  • Sarah Walters (012 678 0645).
  • Julie Malan (012 678 0645).
  • Julie Lampret (012 678 0645).

📌 For genetic testing and counselling services, contact the Ampath Genetics Clinic via phone or email.