Clínic Barcelona. Hospital Universitari

Clinical cases

  • Exome sequencing: new diagnostic tool for mitochondrial disease

    The clinical laboratory plays a very important role in the diagnosis of mitochondrial diseases through biochemical and molecular studies. But the wide range of clinical manifestations and clinical phenotypes makes diagnosis very difficult. The implementation of next generation sequencing (NGS) approach for the diagnosis of mitochondrial diseases such as exome sequencing has become a powerful tool to achieve the definitive diagnosis of many patients.

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  • Liver transplantation: biomarkers for diagnostic and prediction of treatment response

    Serum liver function tests, tumor markers such as alpha-fetoprotein, pharmacological monitoring and pharmacogenetic studies are very useful laboratory test to improve the management of patients undergoing liver transplantation.

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  • Diagnosis of Wilson Disease

    Wilson disease is inherited in an autosomal recessive trait characterized by an impairment of cellular copper transport. It leads to accumulation of copper in several organs, most notably the liver and brain. The diagnosis and early treatment is essential to prevent the progression of the disease.

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  • Premature Ovarian Insufficiency

    Loss of menstrual regularity before the age 40 may be a sign of premature ovarian insufficiency (POI). Early diagnosis of POI is important to to treat the hypogonadism and prevent associated diseases. There is an association between POI and premutation in the FMR1 gene. It is very important to provide information and genetic counseling in carriers for future pregnancies.

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  • Hereditary breast cancer

    Presentation of a clinical case of hereditary breast cancer, which provides an overview of how the different areas of the Biology and Molecular Genetics Department are involved in the diagnosis and monitoring of patients.

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  • Contribution of neonatal screening to the diagnosis of congenital anemias of the newborn.

    Hemoglobinopathies are a group of inherited blood diseases caused by genetic disorders that modify the molecular structure of hemoglobin. For the early diagnosis of these diseases it is important to do a newborn screening with biochemical and genetic studies. Moreover, the latter are essential for genetic counseling in carriers for future pregnancies and prenatal diagnosis.

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  • Familial hypercholesterolemia

    Familial hypercholesterolemia is an inherited disease characterized by the accumulation of LDL cholesterol in blood, which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and a very high risk of premature coronary heart disease. This case includes the application of Next Generation Sequencing in genetic diagnosis and the most important biochemical tests for monitoring the disease.

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  • Early detection and follow-up of colorectal cancer

    Colorectal cancer is the malignant tumor with the highest incidence in Spain. This clinical case offers an overview of the role of the laboratory regarding diagnosis and patient management. It includes screening program, immunohistochemistry, study of genetic mutations and tumor markers.

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  • X-linked adrenoleukodystrophy (X-ALD)

    X-ALD is a metabolic hereditary pathology that affects the nervous system which results in accumulation of the very long saturated chain fatty acids in all body tissues and it is caused by a defect in a peroxisomal membrane transporter protein.

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  • Congenital erythropoietic porphyria. Günther disease

    Günther disease is a congenital form of erythropoietic porphyria. Porphyries are a group of diseases caused by defects in heme group biosynthesis. This clinical case explains the different techniques used in the diagnosis of this disease.

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Biomedical Diagnostic Center (CDB)

Villarroel, 170 · 08036 Barcelona
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