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
panel hereditary breast/ovarian cancer (BRCA1,BRCA2,ATM,BARD1,BRIP1,CHEK2,PALB2,PTEN, RAD51C,RAD51D)
This test is available for the following conditions:
- Conditions > Oncogenetics > Breast and Ovary cancer, hereditary
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- CNV analysis of all genes based on NGS
- Exome analysis (WES or WGS data)
CNV analysis on DNA isolated from FFPE tissue is for now limited to exon 22 in the BRCA1 gene, using NGS.
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, FFPE, Isolated DNA
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:
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Primary immunodeficiencies panel
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:
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Mendelian inherited disorders panel with genome wide CNV analysis
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:
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Mendelian inherited disorders panel with genome wide CNV analysis
- Sonic hedgehog medulloblastoma panel
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:
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
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:
- Hereditary cancer panel
- Inherited bone marrow failure and/or predisposition panel to hematological malignancies
- Mendelian inherited disorders panel with genome wide CNV analysis
- Skin disorders panel¹
- Sonic hedgehog medulloblastoma panel
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
