RTEL1 - dyskeratosis congenita, autosomal dominant type 4

This test is available for the following conditions:

  • Conditions > Skin > Dyskeratosis congenita
  • Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
  • Conditions > Hematological, hereditary > Dyskeratosis congenita
  • Conditions > Immunological, hereditary > Dyskeratosis congenita
  • Conditions > Oncogenetics > Dyskeratosis congenita

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Dyskeratosis congenita and aplastic anemia panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Primary immunodeficiencies 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

OMIM: 608833
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 492

Gene

CTC1 - cerebroretinal microangiopathy with calcifications and cysts

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 418

CTC1 - cerebroretinal microangiopathy with calcifications and cysts



€ 418

CTC1 - cerebroretinal microangiopathy with calcifications and cysts

This test is available for the following conditions:

  • Conditions > Skin > Dyskeratosis congenita
  • Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
  • Conditions > Hematological, hereditary > Dyskeratosis congenita
  • Conditions > Immunological, hereditary > Dyskeratosis congenita
  • Conditions > Oncogenetics > Dyskeratosis congenita

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Dyskeratosis congenita and aplastic anemia panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Movement disorders panel
  • Primary immunodeficiencies panel
  • Skin disorders panel¹
  • Vision 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: 613129
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 418
Gene

DKC1 - dyskeratosis congenita, X-linked

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

DKC1 - dyskeratosis congenita, X-linked



€ 435

DKC1 - dyskeratosis congenita, X-linked

This test is available for the following conditions:

  • Conditions > Skin > Dyskeratosis congenita
  • Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
  • Conditions > Hematological, hereditary > Dyskeratosis congenita
  • Conditions > Immunological, hereditary > Dyskeratosis congenita
  • Conditions > Oncogenetics > Dyskeratosis congenita

This product is also part of the following panels:

  • Dyskeratosis congenita and aplastic anemia panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel
  • Liver disorders panel
  • Mendelian inherited disorders panel
  • Primary immunodeficiencies panel
  • Skin disorders panel¹
  • Vision 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: 300126
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

NHP2 - dyskeratosis congenita, autosomal recessive type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

NHP2 - dyskeratosis congenita, autosomal recessive type 2



€ 336

NHP2 - dyskeratosis congenita, autosomal recessive type 2

This test is available for the following conditions:

  • Conditions > Skin > Dyskeratosis congenita
  • Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
  • Conditions > Hematological, hereditary > Dyskeratosis congenita
  • Conditions > Immunological, hereditary > Dyskeratosis congenita
  • Conditions > Oncogenetics > Dyskeratosis congenita

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Dyskeratosis congenita and aplastic anemia panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Liver disorders panel
  • Mendelian inherited disorders panel
  • Primary immunodeficiencies 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

OMIM: 606470
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336
Gene

NOP10 - dyskeratosis congenita, autosomal recessive type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 327

NOP10 - dyskeratosis congenita, autosomal recessive type 1



€ 327

NOP10 - dyskeratosis congenita, autosomal recessive type 1

This test is available for the following conditions:

  • Conditions > Skin > Dyskeratosis congenita
  • Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
  • Conditions > Hematological, hereditary > Dyskeratosis congenita
  • Conditions > Immunological, hereditary > Dyskeratosis congenita
  • Conditions > Oncogenetics > Dyskeratosis congenita

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Dyskeratosis congenita and aplastic anemia panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Liver disorders panel
  • Mendelian inherited disorders panel
  • Primary immunodeficiencies panel
  • Skin disorders panel¹
  • Vision 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: 606471
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 327
Gene

RTEL1 - dyskeratosis congenita, autosomal dominant type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 492

RTEL1 - dyskeratosis congenita, autosomal dominant type 4



€ 492
Gene

RTEL1 - dyskeratosis congenita, autosomal recessive type 5

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 492

RTEL1 - dyskeratosis congenita, autosomal recessive type 5



€ 492

RTEL1 - dyskeratosis congenita, autosomal recessive type 5

This test is available for the following conditions:

  • Conditions > Skin > Dyskeratosis congenita
  • Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
  • Conditions > Hematological, hereditary > Dyskeratosis congenita
  • Conditions > Immunological, hereditary > Dyskeratosis congenita
  • Conditions > Oncogenetics > Dyskeratosis congenita

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Dyskeratosis congenita and aplastic anemia panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Primary immunodeficiencies 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

OMIM: 608833
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 492
Gene

TERC - dyskeratosis congenita, autosomal dominant type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

TERC - dyskeratosis congenita, autosomal dominant type 1



€ 369

TERC - dyskeratosis congenita, autosomal dominant type 1

This test is available for the following conditions:

  • Conditions > Skin > Dyskeratosis congenita
  • Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
  • Conditions > Hematological, hereditary > Dyskeratosis congenita
  • Conditions > Immunological, hereditary > Dyskeratosis congenita
  • Conditions > Oncogenetics > Dyskeratosis congenita

This product is also part of the following panels:

  • Dyskeratosis congenita and aplastic anemia panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Liver disorders panel
  • Mendelian inherited disorders panel
  • Primary immunodeficiencies 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
Remarks
Please send both EDTA blood (DNA) and buccal swap (DNA) because of possible revertant mozaism in blood.

OMIM: 602322
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

TERT - dyskeratosis congenita, autosomal dominant type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 459

TERT - dyskeratosis congenita, autosomal dominant type 2



€ 459

TERT - dyskeratosis congenita, autosomal dominant type 2

This test is available for the following conditions:

  • Conditions > Skin > Dyskeratosis congenita
  • Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
  • Conditions > Hematological, hereditary > Dyskeratosis congenita
  • Conditions > Immunological, hereditary > Dyskeratosis congenita
  • Conditions > Oncogenetics > Dyskeratosis congenita

This product is also part of the following panels:

  • Dyskeratosis congenita and aplastic anemia panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Liver disorders panel
  • Mendelian inherited disorders panel
  • panel Melanoma, extensive (CDKN2A, CDK4, MITF p.(Glu318Lys), BAP1, POT1, TERT promoter)¹
  • panel Melanoma, extensive (CDKN2A, CDK4, MITF p.(Glu318Lys), BAP1, POT1, TERT promoter)¹
  • Primary immunodeficiencies 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

OMIM: 187270
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 459
Gene

TINF2 - dyskeratosis congenita, autosomal dominant type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 393

TINF2 - dyskeratosis congenita, autosomal dominant type 3



€ 393

TINF2 - dyskeratosis congenita, autosomal dominant type 3

This test is available for the following conditions:

  • Conditions > Skin > Dyskeratosis congenita
  • Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
  • Conditions > Hematological, hereditary > Dyskeratosis congenita
  • Conditions > Immunological, hereditary > Dyskeratosis congenita
  • Conditions > Oncogenetics > Dyskeratosis congenita

This product is also part of the following panels:

  • Dyskeratosis congenita and aplastic anemia panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Primary immunodeficiencies 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

OMIM: 604319
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 393
Gene

WRAP53 - dyskeratosis congenita, autosomal recessive type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

WRAP53 - dyskeratosis congenita, autosomal recessive type 3



€ 369

WRAP53 - dyskeratosis congenita, autosomal recessive type 3

This test is available for the following conditions:

  • Conditions > Skin > Dyskeratosis congenita
  • Conditions > Gastric-Intestinal-Liver > Dyskeratosis congenita
  • Conditions > Hematological, hereditary > Dyskeratosis congenita
  • Conditions > Immunological, hereditary > Dyskeratosis congenita
  • Conditions > Oncogenetics > Dyskeratosis congenita

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Dyskeratosis congenita and aplastic anemia panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Mendelian inherited disorders panel
  • Primary immunodeficiencies 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

OMIM: 612661
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369