Panel

panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) *

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 1036

panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) *



€ 1036

panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

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




€ 1036
Panel

panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) *

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 1428

panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) *



€ 1428

panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

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




€ 1428
Panel

panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) *

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 856

panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) *



€ 856

panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

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




€ 856
Gene

ABCA12 - lamellar, harlequin ichthyosis *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 1114

ABCA12 - lamellar, harlequin ichthyosis *



€ 1114

ABCA12 - lamellar, harlequin ichthyosis *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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: 607800
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1114
Gene

ALOX12B - autosomal recessive congenital ichthyosis *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 688

ALOX12B - autosomal recessive congenital ichthyosis *



€ 688

ALOX12B - autosomal recessive congenital ichthyosis *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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: 603741
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 688
Gene

ALOX12B - nonbullous congenital ichthyosiform erythroderma *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 688

ALOX12B - nonbullous congenital ichthyosiform erythroderma *



€ 688

ALOX12B - nonbullous congenital ichthyosiform erythroderma *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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: 611495
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 688
Gene

ALOXE3 - autosomal recessive congenital ichthyosis *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 699

ALOXE3 - autosomal recessive congenital ichthyosis *



€ 699

ALOXE3 - autosomal recessive congenital ichthyosis *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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: 607206
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 699
Gene

ALOXE3 - nonbullous congenital ichthyosiform erythroderma *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 688

ALOXE3 - nonbullous congenital ichthyosiform erythroderma *



€ 688

ALOXE3 - nonbullous congenital ichthyosiform erythroderma *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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: 242100
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 688
Gene

CSTA - peeling skin syndrome *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 564

CSTA - peeling skin syndrome *



€ 564

CSTA - peeling skin syndrome *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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: 184600
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 564
Gene

CYP4F22 - autosomal recessive ichthyosis, type 5 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 665

CYP4F22 - autosomal recessive ichthyosis, type 5 *



€ 665

CYP4F22 - autosomal recessive ichthyosis, type 5 *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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: 611495
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 665
Gene

NIPAL4 - autosomal recessive ichthyosis, type 6 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 609

NIPAL4 - autosomal recessive ichthyosis, type 6 *



€ 609

NIPAL4 - autosomal recessive ichthyosis, type 6 *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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: 609383
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 609
Gene

PNPLA1 - autosomal recessive ichthyosis, type 10 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 632

PNPLA1 - autosomal recessive ichthyosis, type 10 *



€ 632

PNPLA1 - autosomal recessive ichthyosis, type 10 *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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: 612121
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

STS - X-linked ichthyosis *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 710

STS - X-linked ichthyosis *



€ 710

STS - X-linked ichthyosis *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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
  • Deletion/duplication analysis (MLPA)

OMIM: 300747
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 710
Gene

TGM1 - lamellar ichthyosis *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 699

TGM1 - lamellar ichthyosis *



€ 699

TGM1 - lamellar ichthyosis *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

** % 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: 190195
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 699