TGM1 - lamellar ichthyosis ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) ¹
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (% *)
  • WES skin disorders¹ (% *)

* % 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




€ 435

Panel

panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) ¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 682

panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) ¹



€ 682

panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) ¹

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




€ 682
Panel

panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) ¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 857

panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) ¹



€ 857

panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) ¹

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




€ 857
Panel

panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) ¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 550

panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) ¹



€ 550

panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) ¹

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




€ 550
Gene

ABCA12 - lamellar, harlequin ichthyosis ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 715

ABCA12 - lamellar, harlequin ichthyosis ¹



€ 715

ABCA12 - lamellar, harlequin ichthyosis ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) ¹
  • WES Mendelian inherited disorders (% *)
  • WES skin disorders¹ (% *)

* % 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




€ 715
Gene

ALOX12B - autosomal recessive congenital ichthyosis ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 426

ALOX12B - autosomal recessive congenital ichthyosis ¹



€ 426

ALOX12B - autosomal recessive congenital ichthyosis ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) ¹
  • panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) ¹
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (% *)
  • WES metabolic disorders (% *)
  • WES skin disorders¹ (% *)

* % 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




€ 426
Gene

ALOXE3 - autosomal recessive congenital ichthyosis ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 435

ALOXE3 - autosomal recessive congenital ichthyosis ¹



€ 435

ALOXE3 - autosomal recessive congenital ichthyosis ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) ¹
  • panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) ¹
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (% *)
  • WES skin disorders¹ (% *)

* % 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




€ 435
Gene

CSTA - peeling skin syndrome ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 336

CSTA - peeling skin syndrome ¹



€ 336

CSTA - peeling skin syndrome ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (% *)
  • WES skin disorders¹ (% *)

* % 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




€ 336
Gene

CYP4F22 - autosomal recessive ichthyosis, type 5 ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 410

CYP4F22 - autosomal recessive ichthyosis, type 5 ¹



€ 410

CYP4F22 - autosomal recessive ichthyosis, type 5 ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) ¹
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (% *)
  • WES skin disorders¹ (% *)

* % 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




€ 410
Gene

NIPAL4 - autosomal recessive ichthyosis, type 6 ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 369

NIPAL4 - autosomal recessive ichthyosis, type 6 ¹



€ 369

NIPAL4 - autosomal recessive ichthyosis, type 6 ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) ¹
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (% *)
  • WES skin disorders¹ (% *)

* % 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




€ 369
Gene

PNPLA1 - autosomal recessive ichthyosis, type 10 ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 385

PNPLA1 - autosomal recessive ichthyosis, type 10 ¹



€ 385

PNPLA1 - autosomal recessive ichthyosis, type 10 ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) ¹
  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (% *)
  • WES skin disorders¹ (% *)

* % 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




€ 385
Gene

STS - X-linked ichthyosis ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 443

STS - X-linked ichthyosis ¹



€ 443

STS - X-linked ichthyosis ¹

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • WES Mendelian inherited disorders (% *)
  • WES metabolic disorders (% *)
  • WES skin disorders¹ (% *)

* % 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




€ 443
Gene

TGM1 - lamellar ichthyosis ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 435

TGM1 - lamellar ichthyosis ¹



€ 435