GENETIC COUNSELING

So that you can make decisions for the future

Medical genetics is a clinical specialty that provides an overview of a person’s or family’s genetic profile and evaluates the individual and family risk for genetic disorders. In the CytoGenomic Laboratory, we offer consultations with specialists in medical genetics, who help you understand if genetic inheritance can affect your health or that of your family members – those in the present, but also in the future.

WHAT IS GENETIC CONSULTATION?

Genetic consultation is the process by which the genetic aspects of conditions that affect or may affect an individual or a family are discussed.

In the genetic consultation you can find out:

• The genetic risk of a person or family
• The possible genetic cause of a person’s condition
• The most appropriate genetic tests for diagnosing a condition
• The significance of a genetic test result
• Information about the evolution, prognosis, and management of genetic disorders
• The risk of transmitting the genetic condition to descendants or the risk of other family members being affected

WHEN GENETIC CONSULTATION IS NECESSARY:

Genetic consultation is always indicated before and after performing genetic testing or at certain particular moments in a person’s life:

Preconceptional

• Couples with infertility
• Couples with repeated spontaneous abortions
• Couples with a family history of genetic disorders
• Couples in which one or both members have a genetic disorder
• Consanguineous couples
• Prenatal screening for genetic disorders

Prenatal (during pregnancy)

• Screening tests with high risk for genetic disorders
• Fetal malformations identified by ultrasound

Postnatal

• Child:

– Developmental delay
– Growth retardation
– Dysmorphic features
– Congenital malformations
– Intellectual disability, autism, language delay, ADHD, etc.
– Neuromuscular, skeletal, cardiovascular, neurological conditions, etc. with possible genetic determinism
– Ambiguous genitalia

• Adult:
– Conditions with possible genetic determinism (from any medical field)
– Family history of genetic disorders, including cancers
– Infertility

HOW THE GENETIC CONSULTATION IS PERFORMED

Step 1

Call us to schedule an appointment with one of our specialists.

Step 2

Bring all the necessary medical documents to the consultation.

Step 3

In the genetic consultation, family and personal history are evaluated, a clinical examination is performed, and, depending on the case, a testing or management plan for the patient is developed.