Also Known as
ADAMTS13, C3, C4BPA, C4BPB, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, DGKE, LMNA, MCP, THBD
Sequence analysis of coding regions/splice sites of IS? Genes detects germile variants associated with atypical homlytic urmeic syndome (aHUS); in addition, variants in a umber of these genes have been associated with an unrelated disorder, C3 glomerulopathy (C3G), C3 glomeruloneprhitis (C3GN) and dense deposit disease (DDD).
Additional Test Information
Amniotic Fluid, Buccal Swabs, Cultured Amniocytes, CVS, DNA, EDTA Bone Marrow, EDTA Whole Blood
3-5 mL EDTA Whole Blood or Bone Marrow (lavender top), 3-4 Buccal Swabs, 1 ug DNA at 50 ng/uL, 7-15 mL Amniotic Fluid, 5-10 mg CVS, 2-T25 flasks cultured amniocytes or CVS (2x10^6 minimum)
Fetal: Call Laboratory; Parental/Patient: 2 ml EDTA whole blood
PCR amplification and Next Generation Sequencing (MiSeq) with supplementary Sanger for quality and coverage; MLPA of RCA gene cluster