Angioedema with Normal C1INH Genes

  • Sequencing of known mutations in 6 OMIM related angioedema genes (see table)
  • We also offer duplication/deletion testing for F12 gene, exons 1-12, except exon 3
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Gene OMIM Exon(s)
nlC1INH gene Screen for known HAE Variant(s)
F12 gene 610618 9 c.983C>A, p.Thr328Lys
c.983C>G, p.Thr328Arg
KNG1 gene 619363 10 c.1136T>A, p.Met379Lys
c1720C>G, p.Pro574Ala
ANGPT1 gene 619361 2 c.807G>T, p.Ala119Ser
PLG gene 619360 9 c.988A>G, p.Lys330Glu
18 c2183T>A, p.Val728Glu
MYOF gene 619366 7 c.651G>T, p.Arg217Ser
25 c2576delG, p.Gly859Glufs*8
HS3ST6 gene 619367 2 c.430A>T, p.Thr144Ser

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