Aicardi-Goutières syndrome

Recommended panel testing at Breda Genetics for Aicardi-Goutières syndrome: Aicardi-Goutières syndrome (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1) Summary Aicardi-Goutières (AGS) syndrome is an extremely rare pathology that mainly affects the brain, the immune system, and the skin. At birth, signs and symptoms of the disorder are mostly absent as onset is usually in the first year of life. In approximately […]

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Bardet-Biedl syndrome

Panel testing recommended at Breda Genetics for this condition: Bardet-Biedl syndrome (ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, MKS3, SDCCAG8, TRIM32, TTC8, WDPCP) Summary Bardet–Biedl syndrome (BBS) is a rare ciliopathic genetic disorder that affects many systems of the body. This syndrome is pleiotropic with variable […]

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Overgrowth syndromes

Panel testing recommended at Breda Genetics for this conditions: Overgrowth syndromes (AKT1, AKT3, APC2, CCND2, CDKN1C, DIS3L2, DNMT3A, EED, EZH2, GNAQ, GPC3, HIST1H1E, MTOR, NFIX, NSD1, OFD1, PDGFRB, PIK3CA, PIK3R2, RNF125, TCF20) Summary Complete or partial somatic overgrowth in infancy, childhood or adolescence (sometimes referred to also as macrosomia) is a genetically determined condition, often accompanied […]

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