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.
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.
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.
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.
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.
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.