Inherited, genetic and congenital disorders

What’s the difference? Which is the difference between inherited, genetic and congenital disorders? We often hear about hereditary and/or genetic and/or congenital disorders. These terms are often confused or, even worse, used interchangeably. A hereditary disorder is certainly genetic: indeed it can be defined as a disease caused by a genetic mutation that has been […]

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10 frequently asked question about mitochondrial inheritance

Here are some frequently asked questions (and their answers) about mitochondrial inheritance. For a general introduction to the topic you can read Mitochondrial Inheritance and Mitochondrial Genome. 1. Is mitochondrial DNA exclusively of maternal origin? Mitochondrial DNA is of almost exclusively maternal origin, even if a very little amount, clinically irrelevant and without any implication […]

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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, […]

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