Anemia

panel congenital dyserythropoietic anemia (CDAN1, C15orf41, GATA1, SEC23B, KIF23, KLF1, LPIN2)

This test is available for the following conditions:

• Conditions > Hematological, hereditary > Anemia
• Conditions > Iron disorders > Anemia

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

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panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)

This test is available for the following conditions:

• Conditions > Hematological, hereditary > Anemia
• Conditions > Iron disorders > Anemia

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

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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
• panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)

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

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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
• panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)
• 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

Remarks
Onderzoek uitbesteed aan satellietlab

OMIM: 300751
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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

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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
• panel congenital dyserythropoietic anemia (CDAN1, C15orf41, GATA1, SEC23B, KIF23, KLF1, LPIN2)
• 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

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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
• panel microcytic anemia-due to iron disorder (SLC11A2, TMPRSS6, TF, CP)

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

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GLRX5 - 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:

• Comprehensive preconception carrier test panel¹
• Iron disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Mitochondrial disorders panel
• panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)

Turnaround time
Complete analysis & Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 609588
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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 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

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HSCB - sideroblastic anemia

This test is available for the following conditions:

• 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: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 608142
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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HSPA9 - congenital sideroblastic anemia

This test is available for the following conditions:

• Conditions > Iron disorders > Anemia

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Intellectual disability panel with genome wide CNV analysis
• Iron disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)
• Short stature/skeletal dysplasia 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: 182170
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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
• panel congenital dyserythropoietic anemia (CDAN1, C15orf41, GATA1, SEC23B, KIF23, KLF1, LPIN2)

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

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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:

• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Iron disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• panel congenital dyserythropoietic anemia (CDAN1, C15orf41, GATA1, SEC23B, KIF23, KLF1, LPIN2)

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

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LPIN2 - congenital sideroblastic anemia

This test is available for the following conditions:

• 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
• Primary immunodeficiencies panel
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• 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

OMIM: 605519
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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 panel with genome wide CNV analysis
• Iron disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Muscle disorders panel
• panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)

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

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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
• panel congenital dyserythropoietic anemia (CDAN1, C15orf41, GATA1, SEC23B, KIF23, KLF1, LPIN2)
• 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

Remarks
Onderzoek uitbesteed aan satellietlab

OMIM: 610512
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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
• panel microcytic anemia-due to iron disorder (SLC11A2, TMPRSS6, TF, CP)

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

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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
• panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)

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

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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
• panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)

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

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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
• panel microcytic anemia-due to iron disorder (SLC11A2, TMPRSS6, TF, CP)

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

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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
• panel microcytic anemia-due to iron disorder (SLC11A2, TMPRSS6, TF, CP)

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)

Remarks
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

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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
• panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, HSCB, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)

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

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