Pachyonychia congenita

panel pachyonychia congenita (KRT6A, KRT6B, KRT6C, KRT16, KRT17 hotspots ) ¹

This test is available for the following conditions:

• Conditions > Skin > Pachyonychia congenita

Turnaround time
8 weeks

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA

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KRT16 (exon 1,6) - pachyonychia congenita ¹

This test is available for the following conditions:

• Conditions > Skin > Pachyonychia congenita

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

OMIM: 148067
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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KRT17 (exon 1,6) - pachyonychia congenita ¹

This test is available for the following conditions:

• Conditions > Skin > Pachyonychia congenita

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

OMIM: 148069
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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KRT6A (exon 1,7) - pachyonychia congenita ¹

This test is available for the following conditions:

• Conditions > Skin > Pachyonychia congenita

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

OMIM: 148041
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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KRT6B (exon 1,7) - Pachyonychia congenita ¹

This test is available for the following conditions:

• Conditions > Skin > Pachyonychia congenita

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

OMIM: 148042
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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