Medical Genetics Consultation

A Medical Genetics Consultation focuses on the prevention, diagnosis and treatment of diseases with a genetic origin in individuals with symptoms, signs, or a family history suggestive of a genetic syndrome or hereditary disease.

This consultation allows for presymptomatic diagnosis or etiological clarification, often involving the prescription of molecular tests within the context of precision medicine, which is crucial for future informed decisions by the consultees or their families.

Specialty Procedures

Preconception Genetic Counseling: Especially indicated for couples planning to have children who want to objectively understand the risk of serious pathology in their future offspring.

Prenatal Genetic Counseling: Particularly relevant for the clinical integration of ultrasound anomalies and the interpretation of results from invasive studies. Often, it is in the prenatal context that the risk of serious pathologies, with or without a family history, is evaluated for the couple's offspring, given the current speed of molecular results.

Etiological Clarification: For children with neurodevelopmental disorders, congenital anomalies, or adults with hereditary pathology or suggestive of a genetic syndrome. This consultation with a geneticist is crucial for a clear and precise diagnosis, as well as for the multidimensional process of family counseling.

Oncological Disease Counseling: Important when the diagnosis occurs at a young age, several family members have the same pathology, or in the presence of rare cancers that appeared in a syndromic manner. Breast, ovarian, and colon cancers are the most frequently hereditary. This diagnosis allows the identification of at-risk family members who will be proposed for differentiated medical surveillance. Genetic tests in this area are often necessary for choosing the most effective therapy.

Common Symptoms

Symptoms vary according to the type and stage of the genetic disease, with the most common being:

• Neurodevelopmental disorders
• Short stature
• Dystrophies
• Ataxias
• Dementias
• Dysmorphisms

Medical Genetics at Grupo HPA Saúde

The Medical Genetics specialty at Grupo HPA Saúde is partnered with Unilabs, the national brand with the most extensive experience and resources in genetic laboratory and clinical services.

Main Pathologies/Diseases

Chromosomal Diseases: These are related to alterations in the number or structure of chromosomes.

• Down Syndrome (Trisomy 21)
• Trisomy 18
• Trisomy 13
• Turner Syndrome
• Klinefelter Syndrome
• 22q11.2 Deletion Syndrome

Monogenic Diseases: These involve a single gene.

• Beta-Thalassemias
• Cystic Fibrosis
• Fragile X Syndrome
• Duchenne Muscular Dystrophy
• Prelingual Sensorineural Hearing Loss
• Neurofibromatosis Type 1