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Locations and phones

Call center 93 253 21 00

Monday to Sunday, from 8 am to 8:30 pm

Scheduling or change of appointment 93 378 26 00

Monday to Friday, from 8 am to 7 pm

Private Care - International Patients +34 93 600 97 83

Monday to Friday, from 8 am to 7 pm

SJD Barcelona Children's Hospital

Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat

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Uno de los profesionales del equipo de genética, durante una consulta en el Hospital Sant Joan de Déu Barcelona

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.


We are part of the ERN Ithaca, the european reference network for rare malformation syndromes, intellectual and other neurodevelopmental disorders.

We are also one of the three members of the first network of specialist clinical units (XUEC in Catalan) for the care of minority diseases created by the Catalan Health Service.

Why SJD Barcelona Children's Hospital?

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.

The most advanced technology

We have a clinical genetic consultation, in which we evaluate children with dysmorphic conditions, and genetic counselling.

More information
We offer genetic counselling

We have a clinical genetic consultation, in which we inform, advise and assess risks for family members.

More information
We cooperate and do research with international centres

We are in touch with professionals from other national and international centres, and we actively take part in different research projects.

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Specialties and services

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

  • Cytogenetics lab

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

  • Molecular genetics lab

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

  • Biochemical genetics lab

We perform a full genome study in inherited metabolic diseases.

  • Clinical biochemistry lab – metabolic diseases

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

  • Genome Diagnostics Platform

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

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.

Our professionals

“We integrate the genome and genetics into children's and adolescents' healthcare to understand how they cause illness”.

Adrián Alcalá San Martin
Genetics biologist
Mar Borregan Prats
Genetic counselor
Diana Salinas Chaparro, asesora genética, Hospital Sant Joan de Déu Barcelona
Diana Salinas Chaparro
Genetic counselor
Leticia Pías Peleteiro
Guerau Fernández Isern
Clinical Bioinformatician
Joan Maynou Fernández
Clinical Bioinformatician


The Genetics and Molecular Medicine Department (SMGM) develops scientific activity at SJD Barcelona Children's Hospital and the Sant Joan de Déu Research Institute (IRSJD). The SMGM's clinical and lab-related activities involve research into genetic and metabolic disorders.

Biomedical research projects 

Members of the Department develop biomedical research projects funded by competitive public and private agencies (Instituto de Salud Carlos III, the state-run RD&I plan of the Spanish Ministry of Economy and Competitiveness, the European Commission, CIBERER, Ramón Areces Foundation'Amigos de Nono' Foundation and Isabel Gemio Foundation).

CIBERER research groups

We take part in two research groups of the CIBER on Rare Diseases: U732 and U703, led by Francesc Palau and Rafael Artuch (together with Jaume Campistol), respectively.

Neurogenetics and Molecular Medicine Group 

The Neurogenetics and Molecular Medicine Group of IRSJD, which aims at understanding cellular, molecular, pathophysiological and therapeutic bases of neurogenetic disorders, uses genomic approaches, cell models and animal models in transgenic and knockout mice, and preclinical trials.

We research neuromuscular diseases (Charcot-Marie-Tooth disease, Friedreich's ataxia), central nervous system disorders such as Parkinson's disease and other movement disorders, Menkes Syndrome and neurodevelopmental disorders, such as Coffin-Siris syndrome.


SJD Barcelona Children's Hospital is a university hospital affiliated with the University of Barcelona, and so we share our knowledge and train professionals to specialise in high-complexity medicine.

Specialist training for resident professionals and medical interns

Members of the department actively take part in undergraduate and postgraduate teaching at the University of Barcelona. Notable amongst these activities is Paediatric teaching at degree level, and training in-house and resident physicians in Paediatrics and Clinical Biochemistry.

Master in Clinical Genetics and Rare Diseases

Theoretical and practical training in Clinical and Minority Deseases, aimed at graduates in Medicine and Surgery, specialists in Pediatrics, Internal Medicine, Obstetrics and Gynecology and other medical specialists, and graduates in disciplines in the field of Biomedicine with a master’s degree.

  • Direction: Dr. Francesc Palau Martínez
  • Number of credits: 120 ECTS
  • Duration: 2 years

Master's in Neuropaediatrics

We take part in the training in theory and practice in Neuropaediatrics, aimed at graduates in Medicine and Surgery. Specialists in Paediatrics and Neurology.

  • Management: Dr. Carme Fons Estupiña
  • Number of credits: 120 ECTS
  • Duration: 2 years