Human Genetics
What does this specialty do?
Human genetics is dedicated to the study of genes, heredity, and genetic diseases in people. Its main focus is the diagnosis, management, and prevention of conditions caused by genetic alterations, as well as providing specialized counseling to patients and families.
The Human Genetics service of the Fundación Valle del Lili It provides outpatient care and coordinates the operation of the institution's three genetics laboratories: Molecular Genetics Laboratory, Sequencing Laboratory and Cytogenetics Laboratory, enabling comprehensive care based on precision medicine.
Diseases it treats
Genetic and chromosomal disorders
- Monogenic diseases
- Chromosomal syndromes, such as Down syndrome
- Chromosomal fragility
- Congenital malformations
Hereditary and rare diseases
- Rare genetic diseases
- Inherited metabolic diseases
- Inborn errors of metabolism
Cancer genetics and neurology
- Hereditary cancer predisposition syndromes
- hereditary cancer
- Neurogenetic conditions
Procedures or treatments
- Medical consultation specializing in human genetics
- Karyotype in peripheral blood
- Bone marrow karyotype
- Karyotype in amniotic fluid
- Karyotype for chromosomal fragility
- Molecular studies for specific diseases
- Next-generation sequencing (NGS)
- Parentage studies: paternity, siblinghood, grandparentage, among others
- liquid biopsy
Subspecialties
- Clinical Genetics
- Genetic Counseling
- Molecular Genetic
- Cancer Genetics (Oncogenetics)
- neurogenetics
- Pharmacogenomics
- Congenital malformations
- Metabolic diseases
Schedule an appointment
Request your appointment with the specialists in Human Genetics.
Contact
Call us: (+57) 602 331 9090 ext. 7033