Panel

panel erythrokeratodermia variabilis (GJB3, GJB4)¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 435

panel erythrokeratodermia variabilis (GJB3, GJB4)¹



€ 435

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




€ 435
Gene

GJB3 - erythrokeratodermia variabilis ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 345

GJB3 - erythrokeratodermia variabilis ¹



€ 345

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:

  • panel erythrokeratodermia variabilis (GJB3, GJB4)¹
  • WES hearing impairment (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)
  • WES neuropathies (HMSN)¹ (100.0% **)
  • WES skin disorders¹ (100.0% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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




€ 345
Gene

GJB4 - erythrokeratodermia variabilis ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 345

GJB4 - erythrokeratodermia variabilis ¹



€ 345

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:

  • panel erythrokeratodermia variabilis (GJB3, GJB4)¹
  • WES Mendelian inherited disorders (100.0% **)
  • WES skin disorders¹ (100.0% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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




€ 345