Gene

AKT1 - Cowden syndrome, type 6 ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
*Maastricht UMC+
€ 410

AKT1 - Cowden syndrome, type 6 ¹



€ 410

AKT1 - Cowden syndrome, type 6 ¹

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cowden syndrome
  • Conditions > Skin > Cowden syndrome
  • Conditions > Oncogenetics > Cowden syndrome

This product is also part of the following panels:

  • panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
  • WES skin disorders¹ (99.4% **)

** % 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: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 164730
Performing laboratory: *Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410
Gene

PIK3CA - Cowden syndrome, type 5 ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
*Maastricht UMC+
€ 476

PIK3CA - Cowden syndrome, type 5 ¹



€ 476

PIK3CA - Cowden syndrome, type 5 ¹

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cowden syndrome
  • Conditions > Skin > Cowden syndrome
  • Conditions > Oncogenetics > Cowden syndrome

This product is also part of the following panels:

  • panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
  • WES skin disorders¹ (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: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 171834
Performing laboratory: *Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 476
Gene

PTEN - Cowden syndrome

Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Performing laboratory
Radboudumc
€ 656

PTEN - Cowden syndrome



€ 656

PTEN - Cowden syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Cowden syndrome
  • Conditions > Skin > Cowden syndrome
  • Conditions > Oncogenetics > Cowden syndrome

This product is also part of the following panels:

  • panel hereditary renalcancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1)
  • panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
  • WES skin disorders¹ (97.0% **)

** % 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: 601728
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA




€ 656