Pseudoxanthoma Elasticum

Panel testing recommended at Breda Genetics for this condition: Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX Pseudoxanthoma elasticum (PXE) is a rare progressive genetic disorder that causes the fragmentation and calcification of elastic fibers due to the accumulation of minerals in the connective tissue. The organs mainly affected are the skin, the eye, the cardiovascular and gastrointestinal systems. The […]

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Congenital defects of bile acid synthesis

Panel testing recommended at Breda Genetics for this condition: Congenital bile acid synthesis defect (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7) Congenital defects of bile acid synthesis (BASD) are a group of rare metabolic disorders due to a primary defect in the production of bile acids and are part of the class of progressive liver diseases. Bile acids […]

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Fetal Alcohol Spectrum Disorders and differential diagnosis

Fetal Alcohol Spectrum Disorders includes numerous conditions due to exposure to alcohol during pregnancy. Alcohol has a teratogenic effect, it is able to cross the placental barrier and reach the fetus, which however lacks the enzymes necessary to metabolize it. Long exposure to alcohol and its metabolites (such as acetaldehyde) causes harmful events to fetal […]

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