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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Cerebroretinal microangiopathy with calcifications and cysts (Coats plus syndrome)

Panel testing recommended at Breda Genetics for this condition: Cerebroretinal microangiopathy with calcifications and cysts – Coats plus syndrome – and its differential diagnosis (CTC1, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB) If negative: Dyskeratosis congenita and its differential diagnosis (ADC, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, WRAP53) If negative again: Aicardi-Goutières […]

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