NL
panel somatic mutation-analysis MMR genes (MLH1, PMS2, MSH2, MSH6)
This test is available for the following conditions:
- Conditions > Oncogenetics > Lynch syndrome (HNPCC)
Turnaround time
4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- CNV and LOH analysis of all genes based on NGS
- Exome analysis (WES or WGS data)
- MSI analysis based on NGS
- BRAF V600E analysis as an indication for hypermethylation
Performing laboratory: Radboudumc
Authorized material(s): FFPE
MLH1 - Lynch syndrome
This test is available for the following conditions:
- Conditions > Oncogenetics > Lynch syndrome (HNPCC)
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
- panel hereditary cancer (CDH1, CTNNA1, MLH1, MSH2, MSH6, PMS2)
- panel hereditary colorectal and polyposis
- Panel hereditary pancreatic cancer (BRCA1, BRCA2, PALB2, ATM, CDKN2A, MLH1, MSH2, MSH6, PMS2, STK11)
- panel Lynch syndrome (MLH1, PMS2, MSH2, MSH6)
- Skin disorders panel¹
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
No MLPA is performed on DNA isolated from FFPE material. This results in a modest remaining risk.
OMIM:
120436
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
MLH1 - somatic mismatch repair deficiency (somatic hypermethylation)
This test is available for the following conditions:
- Conditions > Oncogenetics > Lynch syndrome (HNPCC)
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
- panel hereditary cancer (CDH1, CTNNA1, MLH1, MSH2, MSH6, PMS2)
- panel hereditary colorectal and polyposis
- Panel hereditary pancreatic cancer (BRCA1, BRCA2, PALB2, ATM, CDKN2A, MLH1, MSH2, MSH6, PMS2, STK11)
- panel Lynch syndrome (MLH1, PMS2, MSH2, MSH6)
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Methylation analysis
OMIM:
120436
Performing laboratory: Radboudumc
Authorized material(s): FFPE
MSH2 - Lynch syndrome
This test is available for the following conditions:
- Conditions > Oncogenetics > Lynch syndrome (HNPCC)
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
- panel hereditary cancer (CDH1, CTNNA1, MLH1, MSH2, MSH6, PMS2)
- panel hereditary colorectal and polyposis
- Panel hereditary pancreatic cancer (BRCA1, BRCA2, PALB2, ATM, CDKN2A, MLH1, MSH2, MSH6, PMS2, STK11)
- panel Lynch syndrome (MLH1, PMS2, MSH2, MSH6)
- Skin disorders panel¹
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
MLPA analysis cannot be performed on DNA isolated from FFPE material. This results in a modest remaining risk.
OMIM:
609309
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
MSH6 - Lynch syndrome
This test is available for the following conditions:
- Conditions > Oncogenetics > Lynch syndrome (HNPCC)
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
- panel hereditary cancer (CDH1, CTNNA1, MLH1, MSH2, MSH6, PMS2)
- panel hereditary colorectal and polyposis
- Panel hereditary pancreatic cancer (BRCA1, BRCA2, PALB2, ATM, CDKN2A, MLH1, MSH2, MSH6, PMS2, STK11)
- panel Lynch syndrome (MLH1, PMS2, MSH2, MSH6)
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
600678
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane
PMS2 - Lynch syndrome
This test is available for the following conditions:
- Conditions > Oncogenetics > Lynch syndrome (HNPCC)
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
- panel hereditary cancer (CDH1, CTNNA1, MLH1, MSH2, MSH6, PMS2)
- panel hereditary colorectal and polyposis
- Panel hereditary pancreatic cancer (BRCA1, BRCA2, PALB2, ATM, CDKN2A, MLH1, MSH2, MSH6, PMS2, STK11)
- panel Lynch syndrome (MLH1, PMS2, MSH2, MSH6)
- Skin disorders panel¹
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
600259
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane
