Genetic Consultations & Counselling
The aim of medical genetics is the detection and prevention of genetic conditions that can be passed on to the next generation.
The most common reasons for genetic examination:
Genetic examination can be beneficial for:
The geneticist assesses the need and reasons for the examination and finds out details about the medical condition of the patient. The geneticist also discovers the latest findings from the investigated issue in scientific and medical literature.
The next part of the examination is the design of the family tree. Each known member of the patient´s family and his/her health condition is listed for at least two generations.
After the evaluation of data from the personal medical history and family tree the geneticist may recommend laboratory or physical examinations. Those can be biochemical tests, chromosome analyses, molecular genetic testing or an ultrasound examination.
The genetic consultation then has 3 parts:
- detection of hereditary component in the development of the disease (diagnosis)
- estimation of the progress of the disease and the risk of transmission to other family members (prognosis)
- suggestion of measures to reduce the risk (prevention)
Genetic counselling is a genetic consultation with the aim to help the patient and the family of the patient to decide on the method of examination and preventive measures so that they comply with their goals, ethical and religious standards.
Preimplantation Genetic Testing
There are two main options of Preimplantation Genetic Testing. One of which being Preimplantation Genetic Testing of Aneuploidy (PGT-A or also known as PGS) and the second one being Preimplantation Genetic Testing in Monogenic Diseases (PGT-M or also known as PGD).
The PGT-M (PGD) can be tested using either haplotype analysis or karyomapping. For more information please follow the below links.