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:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- panel Dowling-Degos (POFUT1, POGLUT1) ¹
- Skin disorders panel¹
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:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Muscle disorders panel
- panel Dowling-Degos (POFUT1, POGLUT1) ¹
- Skin disorders panel¹
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
