Activity in the Genetic and Molecular Medicine Department at the SJD Barcelona Children's Hospital focuses on genetic diseases appearing in infancy and adolescence.
We receive consultations from all of the Hospital's departments. We maintain constant scientific collaboration with the Neurology and Neonatology Departments, as well as with Obstetrics, Gynaecology and Fetal Medicine (BCNatal), since, in our Department , we perform the tests necessary for antenatal genetic and reproductive diagnosis.
We work closely with the Pediatric Institut for Rare Diseases (IPER) and we form part of the group of diagnostic laboratories used by the Hospital.
We perform genetic and genomic analyses for diagnosis and genetic counselling of our patients, as well as for our researchers.
Specialties
Our mission is to offer patients, families and physicians gene- and genome-based studies that facilitate the diagnosis of genetic disease and genetic advice or counselling that may reveal the risks of developing a hereditary monogenic disease (where a single gene is involved), congenital anomalies, intellectual disability, metabolic disorders or chromosomal or genomic rearrangements.
To this end, besides our labs, we have a clinical genetic consultation, in which we evaluate children with dysmorphic conditions, and genetic counselling, where we inform, advise and assess risks for family members.
These are our labs:
Cytogenetics lab
It is not covered by public health
Molecular genetics lab
It is not covered by public health
Biochemical genetics lab
It is not covered by public health
Clinical biochemistry lab – metabolic diseases
It is not covered by public health
Genome Diagnostics Platform
It is not covered by public health