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:
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- Skin disorders panel¹
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:
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
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:
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- Skin disorders panel¹
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
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:
- Hearing impairment panel (including GJB2)
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- Primary immunodeficiencies panel
- Skin disorders panel¹
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:
- Comprehensive preconception carrier test panel¹
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
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:
- Hemostatic/thrombotic disorders panel
- Hereditary cancer panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
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
