Genetic Disorders


The NLM have been donated 10,000 protective masks to the Civil Protection

Hemochromatosis 15 Mutations, code AC066

Code: AC066

KIT Name: Hemochromatosis 15 Mutations

Description: The device provides reagents for the identification of 15 polymorphisms of HFE (exons 2, 3, 4), TFR2 (exons 2, 4, 6) and FPN1 genes (exon 5), through the amplification of target sequences, reverse-hybridization and color development. Hereditary Hemochromatosis (HH) is a disorder of iron metabolism. The disease is determined by inappropriately high absorption of iron by the gastrointestinal mucosa resulting in a progressive accumulation in important organs such as liver, pancreas, heart. Genetic test is required for an early diagnosis, in the asymptomatic phase, in order to prevent clinical consequence of iron accumulation.

The device allows simultaneous detection of the following 15 mutations:

  • E60X, M172K, Y250X (TFR2 gene)
  • N144H, V162del (FPN1 gene)
  • V53M, V59M, H63H, H63D, S65C, C282Y, Q283P, E168Q, E168X, W169X (HFE gene)

Extraction: AA1001

Detection: RDB on Strip

Test: 25

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P.Iva/Cod.Fisc.: 08763060152 - Cap. Soc. € 110.000,00 i.v.



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