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 (98.1% **)
- WES hereditary cancer (98.1% **)
- WES intellectual disability (98.1% **)
- WES Mendelian inherited disorders (98.1% **)
- WES primary immunodeficiencies (98.1% **)
- WES skin disorders* (98.1% **)
- WES vision disorders (98.1% **)
** % 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
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 dyskeratosis congenita (100.0% **)
- WES hereditary cancer (100.0% **)
- WES Mendelian inherited disorders (100.0% **)
- WES primary immunodeficiencies (100.0% **)
- WES skin disorders* (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
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 dyskeratosis congenita (100.0% **)
- WES hereditary cancer (100.0% **)
- WES Mendelian inherited disorders (100.0% **)
- WES primary immunodeficiencies (100.0% **)
- WES skin disorders* (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:
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:
- WES dyskeratosis congenita (95.1% **)
- WES hereditary cancer (95.1% **)
- WES intellectual disability (95.1% **)
- WES Mendelian inherited disorders (95.1% **)
- WES primary immunodeficiencies (95.1% **)
- WES skin disorders* (95.1% **)
** % 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
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 dyskeratosis congenita (95.1% **)
- WES hereditary cancer (95.1% **)
- WES intellectual disability (95.1% **)
- WES Mendelian inherited disorders (95.1% **)
- WES primary immunodeficiencies (95.1% **)
- WES skin disorders* (95.1% **)
** % 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
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 (% **)
- WES hereditary cancer (% **)
- WES Mendelian inherited disorders (% **)
- WES primary immunodeficiencies (% **)
- WES skin disorders* (% **)
** % 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
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
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 (92.0% **)
- WES hereditary cancer (92.0% **)
- WES primary immunodeficiencies (92.0% **)
- WES skin disorders* (92.0% **)
** % 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:
187270
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:
- WES dyskeratosis congenita (100.0% **)
- WES hereditary cancer (100.0% **)
- WES intellectual disability (100.0% **)
- WES Mendelian inherited disorders (100.0% **)
- WES primary immunodeficiencies (100.0% **)
- WES skin disorders* (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
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 dyskeratosis congenita (100.0% **)
- WES hereditary cancer (100.0% **)
- WES Mendelian inherited disorders (100.0% **)
- WES primary immunodeficiencies (100.0% **)
- WES skin disorders* (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
