NL
DNA-first hereditary breast cancer
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
Turnaround time
Urgent (2-3 weeks)
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- CNV analysis of all genes based on NGS
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood
ATM - risk factor breast cancer
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
This product is also part of the following panels:
- panel hereditary breast or ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,RAD51C,RAD51D)
- panel hereditary breast or ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,RAD51C,RAD51D)
- WES comprehensive preconception carrier test ¹
- WES hereditary cancer (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES primary immunodeficiencies (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 & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
607585
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA
BARD1 - risk factor breast cancer
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601593
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA
BRCA1 - hereditary breast cancer and/or ovarian cancer (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
This product is also part of the following panels:
- panel hereditary breast or ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,RAD51C,RAD51D)
- panel hereditary breast or ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,RAD51C,RAD51D)
- WES comprehensive preconception carrier test ¹
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES Mendelian inherited 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 & Targeted analysis: 3 weeks
Method
- Sequence analysis of selected exons and flanking intron-exon boundaries
Analysis of a known familial mutation only (screening).
OMIM:
113705
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA
BRCA2 - hereditary breast cancer and/or ovarian cancer (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
This product is also part of the following panels:
- panel hereditary breast or ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,RAD51C,RAD51D)
- panel hereditary breast or ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,RAD51C,RAD51D)
- WES comprehensive preconception carrier test ¹
- 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 sonic hedgehog medulloblastoma (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 & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
Analysis of a known familial mutation only (screening).
MLPA analysis only upon request.
OMIM:
600185
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA
BRIP1 - hereditary ovarian cancer (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of selected exons and flanking intron-exon boundaries
OMIM:
605882
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA
CHEK2 - risk factor breast cancer
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
This product is also part of the following panels:
- panel hereditary breast or ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,RAD51C,RAD51D)
- panel hereditary breast or ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,RAD51C,RAD51D)
- WES hereditary cancer (100.0% *)
- WES Mendelian inherited 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 & Targeted analysis: 3 weeks
Method
- Sequence analysis of selected exons and flanking intron-exon boundaries
OMIM:
604373
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA
PALB2 - hereditary breast cancer
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
This product is also part of the following panels:
- panel hereditary breast or ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,RAD51C,RAD51D)
- panel hereditary breast or ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,RAD51C,RAD51D)
- 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 skin disorders¹ (100.0% *)
- WES sonic hedgehog medulloblastoma (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 & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
610355
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA
RAD51C - hereditary ovarian cancer (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
MLPA analysis only upon request.
OMIM:
613399
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA
RAD51D - hereditary ovarian cancer (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
MLPA analysis only upon request.
OMIM:
614291
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA
