Parameter | Method | Sample Type | Significance | |
---|---|---|---|---|
1 |
hereditary haemochromatosis (HH) type 1 |
PCR |
Blood |
Detect common mutations in the HFE gene causing hereditary haemochromatosis (HH) type 1 |
2 |
HFE |
Multiplex PCR |
Blood |
Simultaneous detection of the two most common mutations in the HFF gene: H63D and CP82Y |
3 |
HFE mutations |
PCR-Hybridization |
Blood |
Detection of 18 mutations: twelve HFE mutations, four TFR2 mutations and two FPNI mutations |
4 |
HFE gene mutation |
PCR-Hybridization |
Blood |
Detection of 3 HFEgene mutations: C282Y, H63D, S65C |