Erythrokeratodermia variabilis

panel erythrokeratodermia variabilis (GJB3, GJB4)¹

This test is available for the following conditions:

• Conditions > Skin > Erythrokeratodermia variabilis

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

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GJB3 - erythrokeratodermia variabilis ¹

This test is available for the following conditions:

• Conditions > Skin > Erythrokeratodermia variabilis

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel with genome wide CNV analysis
• Neuropathies panel¹
• panel erythrokeratodermia variabilis (GJB3, GJB4)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: 603324
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GJB4 - erythrokeratodermia variabilis ¹

This test is available for the following conditions:

• Conditions > Skin > Erythrokeratodermia variabilis

This product is also part of the following panels:

• Mendelian inherited disorders panel with genome wide CNV analysis
• panel erythrokeratodermia variabilis (GJB3, GJB4)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: 605425
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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