Lynch syndrome (HNPCC)

panel Lynch syndrome (MLH1, PMS2, MSH2, MSH6)

This test is available for the following conditions:

• Conditions > Oncogenetics > Lynch syndrome (HNPCC)

Turnaround time
3 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Exome analysis (WES or WGS data)
• CNV analysis of all genes based on NGS + MLPA for PMS2

Panel version: DG-4.2.0

• Previous versions

  2025-04-05-DG-4-1-0
  2025-01-21-DG-4-0-0

Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA

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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

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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)

Remarks
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

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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

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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)

Remarks
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

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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

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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

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