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 (99.8% *)
  • WES hereditary cancer (99.8% *)
  • WES Mendelian inherited disorders (99.8% *)
  • WES short stature/skeletal dysplasia (99.8% *)

* % 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




€ 509

Panel

panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)

Turnaround time
3 weeks
Performing laboratory
Radboudumc
€ 990

panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)



€ 990

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
  • Deletion/duplication analysis (MLPA)
Remarks
Including deletion/duplication analysis (MLPA) for the following genes: APC, SMAD4, BMPR1A & STK11.

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




€ 990
Gene

APC - familial adenomatous polyposis

Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Performing laboratory
Radboudumc
€ 649

APC - familial adenomatous polyposis



€ 649

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 (99.7% *)
  • WES Mendelian inherited disorders (99.7% *)
  • WES skin disorders¹ (99.7% *)

* % 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




€ 649
Gene

APC - somatic variants in APC

Turnaround time
8 weeks
Performing laboratory
Radboudumc
€ 763

APC - somatic variants in APC



€ 763

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




€ 763
Gene

BMPR1A - juvenile polyposis coli

Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Performing laboratory
Radboudumc
€ 649

BMPR1A - juvenile polyposis coli



€ 649

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 (96.6% *)
  • WES Mendelian inherited disorders (96.6% *)

* % 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




€ 649
Gene

MUTYH - MUTYH associated polyposis

Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Performing laboratory
Radboudumc
€ 509

MUTYH - MUTYH associated polyposis



€ 509

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)
Remarks
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




€ 509
Gene

NTHL1 - NTHL1-associated polyposis

Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Performing laboratory
Radboudumc
€ 509

NTHL1 - NTHL1-associated polyposis



€ 509

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 (99.8% *)
  • WES Mendelian inherited disorders (99.8% *)

* % 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




€ 509
Gene

POLD1 - polymerase proofreading-associated polyposis

Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Performing laboratory
Radboudumc
€ 509

POLD1 - polymerase proofreading-associated polyposis



€ 509

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 (95.2% *)
  • WES hereditary cancer (95.2% *)
  • WES Mendelian inherited disorders (95.2% *)
  • WES skin disorders¹ (95.2% *)

* % 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




€ 509
Gene

POLE - polymerase proofreading-associated polyposis

Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Performing laboratory
Radboudumc
€ 509

POLE - polymerase proofreading-associated polyposis



€ 509
Gene

SMAD4 - juvenile polyposis coli

Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Performing laboratory
Radboudumc
€ 657

SMAD4 - juvenile polyposis coli



€ 657

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 heart disorders¹ (99.9% *)
  • WES hereditary cancer (99.9% *)
  • WES intellectual disability (99.9% *)
  • WES Mendelian inherited disorders (99.9% *)
  • WES short stature/skeletal dysplasia (99.9% *)

* % 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




€ 657