MEDICAL GENETICS

Medical genetics is a clinic specialty providing a big picture over the genetic profile of an individual or a family, evaluating the individual and family risk for genetic disorders. CytoGenomic Laboratory provides you with counselling performed by medical genetic experts who will help you understand whether genetic inheritance can impair your health or your (current, as well as future) family members’ health.

Make informed decisions about your future

WHAT IS GENETIC COUNSELLING?

The genetic counselling is the process of discussing genetic-related matters of some disorders which affect or may affect an individual or a family.
A genetic counselling can inform on:

• The genetic risk for an individual or a family
• The potential genetic cause of an individual’s disorder
• The most appropriate genetic tests for establishing the diagnosis for a disorder
• The meaning of a genetic test result
• Information about the evolution, the prognosis, and the management of genetic disorders
• The risk of passing on the genetic disorder to one’s offspring, or the risk for other family members to be affected

WHEN IS GENETIC COUNSELLING NECESSARY?

Genetic counselling is always recommended before and after having genetic screening done, or at some specific times during an individual’s life:

Prior to the conception time


• Infertile couples
• Couples with several miscarriages
• Couples with a family history of genetic conditions
• Couples in which one or both partners have a genetic disorder
• Consanguineous couples
• Prenatal screening for genetic conditions

Prenatal (during the pregnancy) • High-risk screening tests for genetic disorders • Foetal malformations identified by ultrasound

Postnatal

• Child:

– Development delay
– Growth impairment
– Dysmorphic features
– Congenital malformations
– Intellectual disability, autism, language delay, ADHD, etc.
– Potentially genetically-determinedneuromuscular, skeleton, cardiovascular, neurologic, etc. disorders
– Ambiguous genitals

• Adult:
– Potentially genetically-determineddisorders (in any medical field)
– Family history of genetic disorders, cancer included
– Infertility

HOW IS A GENETIC COUNSELLING PERFORMED?

Step 1

Call us to schedule for a genetic consultation by one of our experts.

Step 2

Come to the consultation with all the medical documents needed.

Step 3

The family and personal history are assessed, the clinic examination is performed, and a screening or a patient management planning, as applicable, is established during the genetic counselling.