Exome

WES dyskeratosis congenita and aplastic anemia

Turnaround time
Regular: 3 months / Rapid: 15 working days
Performing laboratory
Radboudumc
€ 990

WES dyskeratosis congenita and aplastic anemia




€ 990

WES dyskeratosis congenita and aplastic anemia

This test is available for the following conditions:

  • Conditions > Oncogenetics > Dyskeratosis congenita

Turnaround time
Regular: 3 months / Rapid: 15 working days

Method

  • Whole exome sequencing (WES)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 16 genes.

Panel version: DG 3.1
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA





€ 990
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:

  • WES comprehensive preconception carrier test ¹
  • WES dyskeratosis congenita and aplastic anemia (99.6% *)
  • WES hereditary cancer (99.6% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (99.6% *)
  • WES intellectual disability (99.6% *)
  • WES Mendelian inherited disorders (99.6% *)
  • WES primary immunodeficiencies (99.6% *)
  • WES skin disorders¹ (99.6% *)

* % 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: 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:

  • WES dyskeratosis congenita and aplastic anemia (98.7% *)
  • WES hereditary cancer (98.7% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (98.7% *)
  • WES intellectual disability (98.7% *)
  • WES liver disorders (98.7% *)
  • WES Mendelian inherited disorders (98.7% *)
  • WES primary immunodeficiencies (98.7% *)
  • WES skin disorders¹ (98.7% *)
  • WES vision disorders (98.7% *)

* % 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: 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:

  • WES comprehensive preconception carrier test ¹
  • WES dyskeratosis congenita and aplastic anemia (100.0% *)
  • WES hereditary cancer (100.0% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
  • WES liver disorders (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES primary immunodeficiencies (100.0% *)
  • WES skin disorders¹ (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: 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:

  • WES comprehensive preconception carrier test ¹
  • WES dyskeratosis congenita and aplastic anemia (99.8% *)
  • WES hereditary cancer (99.8% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (99.8% *)
  • WES liver disorders (99.8% *)
  • WES Mendelian inherited disorders (99.8% *)
  • WES primary immunodeficiencies (99.8% *)
  • WES skin disorders¹ (99.8% *)

* % 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: 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

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:

  • WES comprehensive preconception carrier test ¹
  • WES dyskeratosis congenita and aplastic anemia (96.8% *)
  • WES hereditary cancer (96.8% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (96.8% *)
  • WES intellectual disability (96.8% *)
  • WES Mendelian inherited disorders (96.8% *)
  • WES primary immunodeficiencies (96.8% *)
  • WES skin disorders¹ (96.8% *)

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




€ 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:

  • WES comprehensive preconception carrier test ¹
  • WES dyskeratosis congenita and aplastic anemia (96.8% *)
  • WES hereditary cancer (96.8% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (96.8% *)
  • WES intellectual disability (96.8% *)
  • WES Mendelian inherited disorders (96.8% *)
  • WES primary immunodeficiencies (96.8% *)
  • WES skin disorders¹ (96.8% *)

* % 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: 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:

  • WES dyskeratosis congenita and aplastic anemia (% *)
  • WES hereditary cancer (% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (% *)
  • WES liver disorders (% *)
  • WES Mendelian inherited disorders (% *)
  • WES primary immunodeficiencies (% *)
  • WES skin disorders¹ (% *)

* % 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
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:

  • WES dyskeratosis congenita and aplastic anemia (94.5% *)
  • WES hereditary cancer (94.5% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (94.5% *)
  • WES liver disorders (94.5% *)
  • WES Mendelian inherited disorders (94.5% *)
  • WES primary immunodeficiencies (94.5% *)
  • WES skin disorders¹ (94.5% *)

* % 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: 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:

  • WES dyskeratosis congenita and aplastic anemia (100.0% *)
  • WES hereditary cancer (100.0% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
  • WES intellectual disability (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES primary immunodeficiencies (100.0% *)
  • WES skin disorders¹ (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: 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:

  • WES comprehensive preconception carrier test ¹
  • WES dyskeratosis congenita and aplastic anemia (100.0% *)
  • WES hereditary cancer (100.0% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES primary immunodeficiencies (100.0% *)
  • WES skin disorders¹ (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: 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