Disease cards Archives - Breda Genetics srl

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. […]

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. […]

Thanatophoric dysplasia

Panel testing recommended at Breda Genetics for this condition: Skeletal dysplasias, extended (ACP5, AGPS, ALPL, ARSE, B3GAT3, BGN, BMPR1B, BMP2, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CSGALNACT1, DDR2, DYM, EBP, EIF2AK3, FGFR3, FLNB, FZD2, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LBR, P3H1, LIFR, LONP1, MATN3, MMP13, […]