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KRT81 (exon 1,7) - monilethrix ¹
This test is available for the following conditions:
- Conditions > Skin > Monilethrix
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel monilethrix (KRT81, KRT83, KRT86 hotspots)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:
602153
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KRT83 (exon 1,7) - monilethrix ¹
This test is available for the following conditions:
- Conditions > Skin > Monilethrix
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel monilethrix (KRT81, KRT83, KRT86 hotspots)¹
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of selected exons and flanking intron-exon boundaries
OMIM:
602765
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KRT86 (exon 1,7) - monilethrix ¹
This test is available for the following conditions:
- Conditions > Skin > Monilethrix
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel monilethrix (KRT81, KRT83, KRT86 hotspots)¹
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of selected exons and flanking intron-exon boundaries
OMIM:
601928
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
