NL
FTH1 - hereditary hemochromatosis type 5 (IRE-FTH1)
This test is available for the following conditions:
- Conditions > Iron disorders > Hemochromatosis, hereditary
This product is also part of the following panels:
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
134770
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
HAMP - juvenile hemochromatosis type 2B
This test is available for the following conditions:
- Conditions > Iron disorders > Hemochromatosis, hereditary
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Iron disorders panel
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
613313
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
HFE - hemochromatosis type 1
This test is available for the following conditions:
- Conditions > Iron disorders > Hemochromatosis, hereditary
This product is also part of the following panels:
- Heart disorders panel¹
- Iron disorders panel
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
613609
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
HFE2 - juvenile hemochromatosis type 2A
This test is available for the following conditions:
- Conditions > Iron disorders > Hemochromatosis, hereditary
Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
608374
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
IRE-FTL - hyperferritinemia cataract syndrome
This test is available for the following conditions:
- Conditions > Iron disorders > Hemochromatosis, hereditary
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Onderzoek uitbesteed aan satellietlab
OMIM:
134790
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC40A1 - hemochromatosis, type 4 (ferroportin)
This test is available for the following conditions:
- Conditions > Iron disorders > Hemochromatosis, hereditary
This product is also part of the following panels:
- Iron disorders panel
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
604653
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TFR2 - hemochromatosis, type 3
This test is available for the following conditions:
- Conditions > Iron disorders > Hemochromatosis, hereditary
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Iron disorders panel
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Onderzoek uitbesteed aan satellietlab
OMIM:
604720
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
