NL
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
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 (100.0% *)
- WES metabolic 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: 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
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 (100.0% *)
- WES metabolic 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: 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
