NL
panel hemochromatosis (CP, HFE, HFE2, HAMP, TFR2, SLC40A1, BMP6, FTL, IRE-FTH1, ALAS2)
This test is available for the following conditions:
- Conditions > Iron disorders > Hemochromatosis, hereditary
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA
BMP6 - non-HFE related hemochromatosis
This test is available for the following conditions:
- Conditions > Iron disorders > Hemochromatosis, hereditary
This product is also part of the following panels:
- panel hemochromatosis (CP, HFE, HFE2, HAMP, TFR2, SLC40A1, BMP6, FTL, IRE-FTH1, ALAS2)
- WES iron disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
112266
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- WES iron disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- panel hemochromatosis (CP, HFE, HFE2, HAMP, TFR2, SLC40A1, BMP6, FTL, IRE-FTH1, ALAS2)
- WES comprehensive preconception carrier test ¹
- WES iron disorders (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- panel hemochromatosis (CP, HFE, HFE2, HAMP, TFR2, SLC40A1, BMP6, FTL, IRE-FTH1, ALAS2)
- WES heart disorders¹ (100.0% *)
- WES iron disorders (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis & 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
This product is also part of the following panels:
- panel hemochromatosis (CP, HFE, HFE2, HAMP, TFR2, SLC40A1, BMP6, FTL, IRE-FTH1, ALAS2)
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 & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
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:
- panel hemochromatosis (CP, HFE, HFE2, HAMP, TFR2, SLC40A1, BMP6, FTL, IRE-FTH1, ALAS2)
- WES iron disorders (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- panel hemochromatosis (CP, HFE, HFE2, HAMP, TFR2, SLC40A1, BMP6, FTL, IRE-FTH1, ALAS2)
- WES comprehensive preconception carrier test ¹
- WES iron disorders (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
604720
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
