Epidermolytic ichthyosis

KRT1 - epidermolytic ichthyosis with palmoplantar keratoderma¹

This test is available for the following conditions:

• Conditions > Skin > Epidermolytic ichthyosis

This product is also part of the following panels:

• 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: 139350
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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KRT2 - superficial epidermolytic ichthyosis ¹

This test is available for the following conditions:

• Conditions > Skin > Epidermolytic ichthyosis

This product is also part of the following panels:

• 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: 600194
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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