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We perform genetic and genomic analyses for the diagnosis and genetic counselling of our patients.

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.


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

We are studying chromosomes and the alterations that lead to chromosomal and genomic disorders.

It is not covered by public health

Molecular genetics lab

We diagnose monogenic disorders, genomic rearrangements and microduplications. We operate a DNA bank where samples are stored for future tests.

It is not covered by public health

Biochemical genetics lab

We perform a full genome study in inherited metabolic diseases.

It is not covered by public health

Clinical biochemistry lab – metabolic diseases

We study inherited metabolic diseases by identifying metabolites in biological samples (plasma, urine, cerebrospinal fluid) and analysing gene panels.

It is not covered by public health

Genome Diagnostics Platform

We have genome sequencing technology that enables us to study regions of the genome using massive parallel sequencing and CGH arrays.

It is not covered by public health

Confocal microscopy and cell imaging platform

This platform provides advanced diagnostic light microscopy services and aims to explore innovative ways to use confocal and super-resolution microscopy in the field of cell diagnostics.

Translational diagnostic program

Together with Neurogenetics and Molecular Medicine of the IRSJD, we investigate the pathogenic effect of genetic variants of uncertain significance or when there is an inconsistency between the clinical phenotype and the patient's genotype.