NL
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:
- 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 skin disorders¹ (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
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:
- panel somatic mutation analysis (MSH2, MSH6)
- 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 skin disorders¹ (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
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:
- panel somatic mutation analysis (MSH2, MSH6)
- 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
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:
- 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 skin disorders¹ (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
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, Isolated DNA, Buccal mucous membrane
