Panel

panel Dowling-Degos (POFUT1, POGLUT1) ¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 459

panel Dowling-Degos (POFUT1, POGLUT1) ¹



€ 459

panel Dowling-Degos (POFUT1, POGLUT1) ¹

This test is available for the following conditions:

  • Conditions > Skin > Dowling-Degos

Turnaround time
8 weeks

Method

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

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA




€ 459
Gene

POFUT1 - Dowling-Degos disease¹

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

POFUT1 - Dowling-Degos disease¹



€ 369

POFUT1 - Dowling-Degos disease¹

This test is available for the following conditions:

  • Conditions > Skin > Dowling-Degos

This product is also part of the following panels:

  • panel Dowling-Degos (POFUT1, POGLUT1) ¹
  • WES Mendelian inherited disorders (99.4% **)
  • WES metabolic disorders (99.4% **)
  • 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: 607491
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

POGLUT1 - Dowling-Degos disease¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 402

POGLUT1 - Dowling-Degos disease¹



€ 402

POGLUT1 - Dowling-Degos disease¹

This test is available for the following conditions:

  • Conditions > Skin > Dowling-Degos

This product is also part of the following panels:

  • panel Dowling-Degos (POFUT1, POGLUT1) ¹
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (98.7% **)
  • WES metabolic disorders (98.7% **)
  • WES skin disorders¹ (98.7% **)

** % 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: 615618
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 402