NL
panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
This test is available for the following conditions:
- Conditions > Oncogenetics > Polyposis
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- CNV analysis of all genes based on NGS
Including deletion/duplication analysis (MLPA) for the following genes: APC, SMAD4, BMPR1A & STK11.
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
APC - familial adenomatous polyposis
This test is available for the following conditions:
- Conditions > Oncogenetics > Polyposis
This product is also part of the following panels:
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- WES hereditary cancer (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
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
611731
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
APC - somatic variants in APC
This test is available for the following conditions:
- Conditions > Oncogenetics > Polyposis
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
611731
Performing laboratory: Radboudumc
Authorized material(s): FFPE
BMPR1A - juvenile polyposis coli
This test is available for the following conditions:
- Conditions > Oncogenetics > Polyposis
This product is also part of the following panels:
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- WES hereditary cancer (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
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
601299
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
MUTYH - MUTYH associated polyposis
This test is available for the following conditions:
- Conditions > Oncogenetics > Polyposis
This product is also part of the following panels:
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- WES comprehensive preconception carrier test ¹
- WES hereditary cancer (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
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
Deletion/duplication analysis is performed only when one mutation is identified in the heterozygous state.
OMIM:
604933
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
NTHL1 - NTHL1-associated polyposis
This test is available for the following conditions:
- Conditions > Oncogenetics > Polyposis
This product is also part of the following panels:
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- WES comprehensive preconception carrier test ¹
- WES hereditary cancer (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
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602656
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
POLD1 - polymerase proofreading-associated polyposis
This test is available for the following conditions:
- Conditions > Oncogenetics > Polyposis
This product is also part of the following panels:
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- WES hearing impairment (including GJB2) (100.0% *)
- WES hereditary cancer (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES primary immunodeficiencies (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
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
174761
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
POLE - polymerase proofreading-associated polyposis
This test is available for the following conditions:
- Conditions > Oncogenetics > Polyposis
This product is also part of the following panels:
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- WES comprehensive preconception carrier test ¹
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES hereditary cancer (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES short stature/skeletal dysplasia (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
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
174762
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
SMAD4 - juvenile polyposis coli
This test is available for the following conditions:
- Conditions > Oncogenetics > Polyposis
This product is also part of the following panels:
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- WES hereditary cancer (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (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
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
600993
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
