Also Known as
ADAMTS13, C3, C4BPA, C4BPB, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, DGKE, LMNA, MCP, THBD
Coding regions/splice sites of 15 genes are sequenced in the evaluation of aHUS. Many cases of aHUS are caused by uncontrolled activation of the complement system; both familial and sporadic forms can be caused by complement-related genetic variants.
Additional Test Information
Fetal: Amniotic Fluid, CVS, Cultured Amniocytes or Cultured CVS; Parental/Patient: EDTA Whole Blood (lavender top)
Fetal: 7-15 ml Amniotic Fluid or 5-10 mg CVS, backup culture of Amniocytes or CVS is highly recommended; Two T25 flasks Cultured Amniocytes or CVS (2x10^6 minimum); Parental/Patient: 3-5 ml
Fetal: Call Laboratory; Parental/Patient: 2 ml
Capture Hybridization and Next Generation Sequencing (MiSeq)