Gene

AAGAB - palmoplantar keratoderma, type punctata ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 385

AAGAB - palmoplantar keratoderma, type punctata ¹



€ 385

AAGAB - palmoplantar keratoderma, type punctata ¹

This test is available for the following conditions:

  • Conditions > Skin > Palmoplantar keratoderma

This product is also part of the following panels:

  • WES Mendelian inherited disorders (99.8% **)
  • 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: 614888
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385
Gene

DSG1 - palmoplantar keratoderma (striata/SAM) ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 435

DSG1 - palmoplantar keratoderma (striata/SAM) ¹



€ 435

DSG1 - palmoplantar keratoderma (striata/SAM) ¹

This test is available for the following conditions:

  • Conditions > Skin > Palmoplantar keratoderma

This product is also part of the following panels:

  • WES Mendelian inherited disorders (97.7% **)
  • WES skin disorders¹ (97.7% **)

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

Method

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

OMIM: 125670
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

KRT9 - palmoplantar keratoderma, type vörner ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 369

KRT9 - palmoplantar keratoderma, type vörner ¹



€ 369

KRT9 - palmoplantar keratoderma, type vörner ¹

This test is available for the following conditions:

  • Conditions > Skin > Palmoplantar keratoderma

This product is also part of the following panels:

  • WES Mendelian inherited disorders (96.3% **)
  • WES skin disorders¹ (96.3% **)

** % 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: 607606
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

SERPINB7 - Palmoplantar keratoderma, type Nagashima¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 369

SERPINB7 - Palmoplantar keratoderma, type Nagashima¹



€ 369

SERPINB7 - Palmoplantar keratoderma, type Nagashima¹

This test is available for the following conditions:

  • Conditions > Skin > Palmoplantar keratoderma

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (99.6% **)
  • WES skin disorders¹ (99.6% **)

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

Method

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

OMIM: 603357
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369