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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Recurrent pregnancy loss (RPL): definitions and etiology

Recurrent pregnancy loss (RPL): what is it? Pregnancy loss is the most common adverse event of pregnancy. However, the definition of recurrent pregnancy loss (RPL) is far from unambiguous: the Royal College of Obstetricians and Gynecologists (RCOG) defines RPL as three or more consecutive spontaneous miscarriages (RCOG 2011), while the American Society for Reproductive Medicine […]

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