NL
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 with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- 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
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
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 with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- 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
