Genetic stroke syndromes

Panel testing recommended at Breda Genetics for this condition: Pan272 - Genetic stroke syndromes (ACTA2, ADA2,  APP, COL3A1, COL4A1, CST3, FBN1, GLA, GUCY1A3, HBB, HTRA1, ITM2B, NOTCH3, RNF213, TREX1, mtDNA) Cerebral stroke is a major cause or morbity and moratility. In most cases, stroke is a result of multifactorial interactions and is not primarily genetic. […]

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Expanded Carrier Screening

Every person is a carrier of AR/XLR mutations Pathogenic mutations causing autosomal recessive (AR) and X-linked recessive (XLR) genetic diseases are rare, but each of us is a healthy carrier of at least 5 AR/XLR conditions, according to estimates. So, we are all potentially exposed to specific reproductive risks for rare disorders, although such risks […]

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Cerebral cavernous malformations

Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord. They are formed by closely clustered, enlarged capillary channels (so called "caverns") consituted by a single layer of endothelium, which is abnrormally thin. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. […]

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