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IVD Assays Services
FromAppolon Bioteck
Appolon Bioteck offers IVD assays based on molecular biology; Autoinflammatory disorders Familial Mediterranean fever (FMF, gene MEFV). TNF receptor-associated periodic syndrome (TRAPS, gene TNFRSF1A). Cryopyrin-associated periodic syndrome (CAPS, gene NLRP3). Mevalonate kinase deficiency (MKD, gene MVK).
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Cystic fibrosis :
- Full CFTR gene sequencing by NGS
Mental Retardation :
- Fragile X Syndrome: FMR-1 gene
- Trisomies 13, 18 et 21
Infertility :
- CFTR gene
- FMR-1 Mutation
- Deletions of Y chromosome
Hemostasis :
- Factor V Leiden (p.Arg506Gln)
- Factor II (g.20210G>A)
- MTHFR (c.677C>T)
Hemochromatosis :
- p.Ser65Cys
- C.282H, p.H63D
Alpha-1 Antitrypsine :
- Variant S; p.Glu264Val
- Variant Z; p.Glu342Lys
Lactose Intolerance :
- c.13910T>C
- c.22018G>A