Consultations and genetic counseling

The CEGH-CEL professionals are enabled for the care of patients and families
and patients with:

  • Neuromuscular and neurodegenerative diseases.
  • Craniofacial diseases, skeletal dysplasias and connective tissue diseases.
  • Intellectual Disability, Autism and Developmental Disorders.
  • Hereditary cancer.

It is performed genetic counseling in order to provide detailed information on a condition that is or may originate (etiology) genetics. The service is targeted at individuals affected by genetic disorders and congenital malformations and their families and for people with no family history of genetic disease, but who have increased risk that his descendants present some of these diseases.

The steps of genetic counseling are:

  • Historical Survey of personal and family, evaluation of clinical and genetic already made and use of additional tests, if necessary;
  • Data analysis in order to diagnose, confirm or exclude a genetic condition known;
  • providing information about the nature of the identified genetic disease and its implications for the physical or mental health of the individual;
  • clarification of the inheritance mechanism and occurrence of risk calculation or recurrence in siblings or children of an individual;
  • identification of asymptomatic family members - who have no symptoms but are carriers of genetic change - and the risks of these families develop the disease or passing it to their children;
  • prenatal guidance for couples or pregnant women at risk of occurrence or recurrence of genetic disorders in their offspring.
  • In cases diagnosed clinically defined and known inheritance mechanism, is offered genetic counseling for families, with explanation of genetic risks. Also offers up the possibility of relatives "at risk" to undergo genetic testing related to the problem if they wish.
  • In the case of diseases where there is the influence of genetic factors, but whose inheritance mechanisms are not known, information on recurrence risk is based on empirical estimates (estimated risks of direct observation of families with the same disease).

Phones for scheduling:

Autism Spectrum Disorder (11) 3091.7582
Fragile X syndrome (11) 3091.7541
Hereditary deafness (11) 3091.7478
Other diseases (11) 3091.7966 or (11) 3091.0878