Genetic Diseases (Clinical Genetics)

The department for Clinical Genetics handles queries about genetic diseases. We have special expertise in diseases of the heart and vascular system (cardiogenetics), brain and nervous system (neurogenetics), cancer (oncogenetics) and prenatal diagnostics.

Our laboratory facilities can perform diagnostic procedures ranging from simple to the most advanced techniques, such as Genomic Array Analysis and Whole Exome Sequencing (WES).

More information: Providing the Genetic Services People Need – Erasmus MC University Medical Center

The Department of Clinical Genetics at Erasmus Medical Centre

The Erasmus MC is one of the largest tertiary care and academic hospitals in the Netherlands. Our hospital can proudly offer the services of highly specialized medical professionals for the treatment of complex and rare diseases.

We are committed to provide the very best diagnostic testing and counseling with highly skilled and experienced physicians, scientists and medical staff at the Erasmus MC hospital. Our department works closely with the Departments of Obstetrics and Gynecology and Reproductive Medicine. Our department collaborates closely with a number of other departments and the outstanding Academic Centers of Excellence of the Erasmus MC.

Our laboratory diagnostics include:

  • Karyotyping (Cytogenetics)
  • Non-Invasive Prenatal Test (NIPT)
  • Sanger Sequencing
  • Copy Number validation
  • DNA diagnostics
  • Genomic Array analysis
  • Whole Exome Sequencing (WES)
  • Functional Genetic Analysis
  • Genomic Metabolic and Enzyme analysis

Please feel free to contact us for any disease or disorder related to clinical genetics.

Counselling & Diagnostics

We offer (pre-/postnatal) diagnosis and counseling for the following specialisms:

Preconception Advice

Preconception advice is a type of consultation for couples who have a genetic or congenital disease themselves or in their family and who are considering parenthood. The aim of the consultation is to clarify how a genetic abnormality in the father, mother, or relatives may affect the pregnancy and health outcomes in the baby.

Prenatal Diagnostics and Genetics

Our department may conduct Next Generation Sequencing (NGS) or Whole Exome Sequencing (WES) upon suspicion of ultrasound abnormalities due to a genetic disorder. Please see our Fetal Medicine and Care page for more information.

Cardiovascular genetics

The Expertise Centre for inherited Cardiovascular Diseases and the European Reference Network on Rare Multisystem Vascular Disease (VASCERN) focus on the diagnosis and treatment of cardiomyopathies, arrhythmias and aortic aneurysms. For more information on congenital cardiac abnormalities, please see our webpage for Congenital Heart Diseases.

Hematogenetics (genetics of blood disorders)

We counsel for genetic blood disorders such as hemophilia, Von Willebrand disease and rare hemorrhagic disorders due to coagulation factor defects (FXIII, FXI, FVII, FV deficiency and alpha2-antiplasmin deficiency).These disorders are treated at the Hemophilia Treatment Centre. Hereditary anemias, e.g. sickle cell disease and thalassemia are treated at the adult and pediatric Sickle Cell Centers.

Lysosomal and metabolic genetic disorders

Clinical Genetics works closely with the Dutch Porphyria Center, the Center for Lysosomal and Metabolic Diseases (for diseases such as the mucopolysaccharidosis types I, II and IV and Mucolipidosis), and the Center for PKU, Urea Cycle Disorders and Organic Acidurias.

Neurogenetics (genetics of the brain and nervous system)

We works closely with the Expertise Center for Neuro-developmental disorders (ENCORE), which focuses on patients with the following diseases:

Neurofibromatosis type 1; Tuberous sclerosis complex; Angelman syndrome; Fragile X syndrome; Sturge-Weber syndrome; Central nervous system malformation; Cardiofaciocutaneous syndrome (CFC); Costello syndrome; Autism and movement disorders.

The Alzheimer Center focuses on patients with acquired neurological (genetic) diseases.

Oncogenetics (genetics of cancer)

The Department of Clinical Genetics counsels patients of the The Erasmus MC Cancer Institute and Academic Breast Cancer Centre, which focus on helping patients with hereditary cancers.

These include Peutz-Jeghers syndrome, PTEN Hamartoma Tumor Syndrome, LiFraumeni syndrome, and DICER1 syndrome. We also collaborate closely with the Brain Tumor Center, Head and Neck Cancer Center, and the Soft Tissue Sarcoma Center.

Furthermore, we counsel patients who are treated at the Academic Centers of Excellence for breast, gynecological, urological, esophageal/ gastro-intestinal, hepatic/ biliary/ pancreatic, hematologic, neuroendocrine, skin and thyroid gland malignancies.

Our medical expertise aids in making crucial medical decisions in a range of innovative treatments, such as repair-targeted cancer treatment, immunotherapy and stem cell transplantation.

Other rare diseases of genetic and congenital origin

Our numerous expertise centers diagnose and treat a wide range of other rare genetic diseases, such as Prader Willi Syndrome (PWS) at the Prader Willi Syndrome Expertise Centre as well as primary immune deficiencies at the Immunity Centre for Primary Immune Deficiencies.

Our pediatric clinical geneticists, surgeons, urologists and endocrinologists are happy to assist our youngest patients and their parents in deciding upon treatment plans.

More about the Department of Clinical Genetics at Erasmus MC

Our Team

In order to ensure that our patients at the Department of Clinical Genetics receive the most comprehensive care, we have established a multidisciplinary team of clinical geneticists, laboratory specialists, psychologists and genetic counsellors who work together to offer an optimal counselling and diagnostic path for each patient.

Our Medical Expertise

Our protocols have been validated and are regularly updated according to new evidence, institutional experiences and through continuously on-going research.

The Erasmus MC houses a range of nationally renowned and internationally recognized Academic Centers of Excellence.

Affiliated Departments and Expertise Centers

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