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MLH1 - mismatch repair cancer syndrome
This test is available for the following conditions:
- Conditions > Oncogenetics > Mismatch repair cancer syndrome
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
- Skin disorders panel¹
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
120436
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MSH2 - mismatch repair cancer syndrome
This test is available for the following conditions:
- Conditions > Oncogenetics > Mismatch repair cancer syndrome
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
- panel somatic mutation analysis (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.
OMIM:
609309
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
MSH6 - mismatch repair cancer syndrome
This test is available for the following conditions:
- Conditions > Oncogenetics > Mismatch repair cancer syndrome
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
- panel somatic mutation analysis (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, Isolated DNA, Buccal mucous membrane
PMS2 - mismatch repair cancer syndrome
This test is available for the following conditions:
- Conditions > Oncogenetics > Mismatch repair cancer syndrome
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
- 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
