NL
COL7A1 - autosomal dominant dystrophic epidermolysis bullosa ¹
This test is available for the following conditions:
- Conditions > Skin > Dystrophic epidermolysis bullosa
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
120120
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COL7A1 - autosomal recessive dystrophic epidermolysis bullosa ¹
This test is available for the following conditions:
- Conditions > Skin > Dystrophic epidermolysis bullosa
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
120120
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COL7A1 - dystrophic epidermolysis bullosa ¹
This test is available for the following conditions:
- Conditions > Skin > Dystrophic epidermolysis bullosa
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
120120
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
