Some hereditary diseases manifest themselves later in life even though the genetic mutation exists since birth. These are diverse and include among others:
- Cardio-vascular diseases such as Marfan syndrome and Hypertrophic Obstructive Cardiomyopathy
- Neurological diseases such as Charcot Marie Tooth and Spinocerebellar Ataxias
- Various forms of muscle atrophy such as Myotonic Dystrophy and Hereditary Inclusion Body Myopathy
The clinic's goals:
- To explore if a patient or their relatives suffer from a hereditary disease
- Recommend the appropriate genetic tests
- Supply recommendations for follow-up and preventative measures for the patient. Adult hereditary diseases require various periodical medical examinations.
- Recommend genetic investigation for family members.
Before visiting the clinic, please fax your referral letter and a payment guarantee.
When coming to the clinic, please bring with you all relevant medical information, including a summation letter from the referring physician and other caregivers, and results of all medical tests (EKG, imaging, EMG etc.) if possible, please inquire with relatives about relative medical information.
During the visit the counselor will review the patient's medical history, as well as previously performed tests, and create a family tree with all the relevant information about family members. If needed, the patient will undergo a physical examination by a physician.
In addition and as necessary, we'll draw blood for a genetic screening for the specific disease. In some cases the test looks at a specific gene and in others at a panel of genes. No fasting before the test is needed.
Preliminary follow-up includes an explanation of the results of the genetic screening and recommendations for further genetic tests if necessary. Other follow-up is disease-specific. Usually the patient will be asked to come to the clinic once a year for a review of their tests and to discuss any new findings.