Congenital Myopathies

Recommended panel testing at BREDA GENETICS for this condition (EXOME PANEL): Nemaline myopathy and other congenital myopathies (ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3) Making a genetic diagnosis of congenital myopathies is not easy, but it’s necessary to assess the recurrence risk. Nance JR et al […]

Continue reading

Membranoproliferative glomerulonephritis

Recommended panel testing at Breda Genetics for this condition: Dense deposit disease, membranoproliferative glomerulonephritis II, atypical hemolytic uremic syndrome & thrombotic thrombocytopenic purpura (ADAMTS13, C3, CD46, CFB, CFHR1, CFHR3, CFHR4, CFHR5, CFH, CFI, DGKE, LMNA, LCAT, THBD) A classification needed first There is a high degree of overlapping information about the genetics of membranoproliferative glomerulonephrites (MPGN) […]

Continue reading