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




€ 740

Products Conditions Hematological, hereditary Anemia
Panel

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

Turnaround time
8 weeks
Performing laboratory
Radboudumc
€ 740

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



€ 740
Panel

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

Turnaround time
8 weeks
Performing laboratory
Radboudumc
€ 638

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



€ 638

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




€ 638
Gene

ABCB7 - X-linked sideroblastic anemia, with sideroblastic ataxia

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

ABCB7 - X-linked sideroblastic anemia, with sideroblastic ataxia



€ 435

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:

** % 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: 300135
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

ALAS2 - X-linked sideroblastic anemia

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

ALAS2 - X-linked sideroblastic anemia



€ 402

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:

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




€ 402
Gene

C15ORF41 - congenital dyserythropoietic anemia, type Ib

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 394

C15ORF41 - congenital dyserythropoietic anemia, type Ib



€ 394

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




€ 394
Gene

CDAN1 - congenital dyserythropoietic anemia, type I

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 476

CDAN1 - congenital dyserythropoietic anemia, type I



€ 476

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:

** % 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: 607465
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 476
Gene

CP - hereditary hypoceruloplasminemia

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

CP - hereditary hypoceruloplasminemia



€ 468

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:

** % 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: 604290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 468
Gene

GLRX5 - sideroblastic anemia, autosomal recessive

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

GLRX5 - sideroblastic anemia, autosomal recessive



€ 385

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:

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




€ 385
Gene

GSS - hemolytic anemia due to glutathione synthetase deficiency

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410

GSS - hemolytic anemia due to glutathione synthetase deficiency



€ 410

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:

** % 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: 601002
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410
Gene

KIF23 - congenital dyserythropoietic anemia, type III

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 476

KIF23 - congenital dyserythropoietic anemia, type III



€ 476

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:

** % 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: 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




€ 476
Gene

KLF1 - anemia, dyserythropoietic congenital, type IV

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

KLF1 - anemia, dyserythropoietic congenital, type IV



€ 344

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:

** % 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: 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




€ 344
Gene

PUS1 - Myopathy- lactic acidosis- and sideroblastic anemia

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PUS1 - Myopathy- lactic acidosis- and sideroblastic anemia



€ 725

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:

** % 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: 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




€ 725
Gene

SEC23B - congenital dyserythropoietic anemia, type II

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

SEC23B - congenital dyserythropoietic anemia, type II



€ 468

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:

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




€ 468
Gene

SLC11A2 - hypochromic microcytic anemia

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

SLC11A2 - hypochromic microcytic anemia



€ 443

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:

** % 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: 600523
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 443
Gene

SLC25A38 - congenital microcytic, hypochromic sideroblastic anemia

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 361

SLC25A38 - congenital microcytic, hypochromic sideroblastic anemia



€ 361

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:

** % 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: 610819
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361
Gene

STEAP3 - sideroblastic anemia, autosomal recessive

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 352

STEAP3 - sideroblastic anemia, autosomal recessive



€ 352

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:

** % 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: 609671
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 352
Gene

TF - atransferrinemia

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 452

TF - atransferrinemia



€ 452

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:

** % 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: 190000
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 452
Gene

TMPRSS6 - iron-refractory iron deficiency anemia

Turnaround time
Complete analysis & Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 707

TMPRSS6 - iron-refractory iron deficiency anemia



€ 707

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:

** % 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
  • 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




€ 707
Gene

YARS2 - myopathy, lactic acidosis and sideroblastic anemia

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

YARS2 - myopathy, lactic acidosis and sideroblastic anemia



€ 725

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:

** % 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: 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




€ 725