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ABCB7 - X-linked sideroblastic anemia, with sideroblastic ataxia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Movement disorders panel
Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
300135
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ALAS2 - X-linked sideroblastic anemia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Skin disorders panel¹
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:
300751
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
C15ORF41 - congenital dyserythropoietic anemia, type Ib
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
615626
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CDAN1 - congenital dyserythropoietic anemia, type I
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Skin disorders panel¹
Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
607465
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CP - hereditary hypoceruloplasminemia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Mitochondrial disorders panel
- Movement disorders panel
Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
604290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GSS - hemolytic anemia due to glutathione synthetase deficiency
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601002
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KIF23 - congenital dyserythropoietic anemia, type III
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
605064
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KLF1 - anemia, dyserythropoietic congenital, type IV
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Iron 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
OMIM:
600599
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PUS1 - Myopathy- lactic acidosis- and sideroblastic anemia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
- Conditions > Mitochondrial disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
608109
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SEC23B - congenital dyserythropoietic anemia, type II
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Skin disorders panel¹
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:
610512
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC11A2 - hypochromic microcytic anemia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Iron 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:
600523
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC25A38 - congenital microcytic, hypochromic sideroblastic anemia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Mitochondrial disorders panel
Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
610819
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
STEAP3 - sideroblastic anemia, autosomal recessive
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Iron 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:
609671
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TF - atransferrinemia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Iron 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:
190000
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TMPRSS6 - iron-refractory iron deficiency anemia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Iron 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
- Deletion/duplication analysis (MLPA)
If EDTA blood is provided, deletion/Duplication analysis (by MLPA) is included.Please also send serum for hepcindin analysis (www.hepcidinanalysis.com)
OMIM:
609862
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
YARS2 - myopathy, lactic acidosis and sideroblastic anemia
This test is available for the following conditions:
- Conditions > Hematological, hereditary > Anemia
- Conditions > Iron disorders > Anemia
- Conditions > Mitochondrial disorders > Anemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Iron disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
610957
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
