Genetic Testing for Cardiovascular Disorders

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.

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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.