Panel

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

Turnaround time
8 weeks
Performing laboratory
*Maastricht UMC+
€ 682

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



€ 682

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




€ 682
Panel

panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) *

Turnaround time
8 weeks
Performing laboratory
*Maastricht UMC+
€ 857

panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) *



€ 857

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




€ 857
Panel

panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) *

Turnaround time
8 weeks
Performing laboratory
*Maastricht UMC+
€ 550

panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) *



€ 550

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




€ 550
Gene

ABCA12 - lamellar, harlequin ichthyosis *

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

ABCA12 - lamellar, harlequin ichthyosis *



€ 715

ABCA12 - lamellar, harlequin ichthyosis *

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) *
  • WES comprehensive preconception carrier test *
  • WES Mendelian inherited disorders (98.4% **)
  • WES skin disorders* (98.4% **)

** % 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 *

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

ALOX12B - autosomal recessive congenital ichthyosis *



€ 426

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:

  • panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) *
  • panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) *
  • WES comprehensive preconception carrier test *
  • WES Mendelian inherited disorders (99.8% **)
  • WES metabolic disorders (99.8% **)
  • WES skin disorders* (99.8% **)

** % 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

ALOX12B - nonbullous congenital ichthyosiform erythroderma *

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

ALOX12B - nonbullous congenital ichthyosiform erythroderma *



€ 426

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:

  • panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) *
  • panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) *
  • WES comprehensive preconception carrier test *
  • WES Mendelian inherited disorders (99.8% **)
  • WES metabolic disorders (99.8% **)
  • WES skin disorders* (99.8% **)

** % 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




€ 426
Gene

ALOXE3 - autosomal recessive congenital ichthyosis *

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

ALOXE3 - autosomal recessive congenital ichthyosis *



€ 435

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:

  • panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) *
  • panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) *
  • WES comprehensive preconception carrier test *
  • WES Mendelian inherited disorders (99.4% **)
  • WES skin disorders* (99.4% **)

** % 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

ALOXE3 - nonbullous congenital ichthyosiform erythroderma *

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

ALOXE3 - nonbullous congenital ichthyosiform erythroderma *



€ 426

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:

  • panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) *
  • panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) *
  • WES comprehensive preconception carrier test *
  • WES Mendelian inherited disorders (99.4% **)
  • WES skin disorders* (99.4% **)

** % 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




€ 426
Gene

CSTA - peeling skin syndrome *

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

CSTA - peeling skin syndrome *



€ 336

CSTA - peeling skin syndrome *

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 *
  • WES Mendelian inherited disorders (99.1% **)
  • WES skin disorders* (99.1% **)

** % 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 *

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

CYP4F22 - autosomal recessive ichthyosis, type 5 *



€ 410

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:

  • panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) *
  • WES comprehensive preconception carrier test *
  • WES Mendelian inherited disorders (98.8% **)
  • WES skin disorders* (98.8% **)

** % 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 *

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

NIPAL4 - autosomal recessive ichthyosis, type 6 *



€ 369

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:

  • panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) *
  • WES comprehensive preconception carrier test *
  • WES Mendelian inherited disorders (99.3% **)
  • WES skin disorders* (99.3% **)

** % 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 *

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

PNPLA1 - autosomal recessive ichthyosis, type 10 *



€ 385

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:

  • panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) *
  • WES comprehensive preconception carrier test *
  • WES Mendelian inherited disorders (100.0% **)
  • WES skin disorders* (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: 612121
Performing laboratory: *Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385
Gene

STS - X-linked ichthyosis *

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

STS - X-linked ichthyosis *



€ 443

STS - X-linked ichthyosis *

This test is available for the following conditions:

  • Conditions > Skin > Ichthyosis

This product is also part of the following panels:

  • WES Mendelian inherited disorders (95.2% **)
  • WES metabolic disorders (95.2% **)
  • WES skin disorders* (95.2% **)

** % 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 *

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

TGM1 - lamellar ichthyosis *



€ 435

TGM1 - lamellar ichthyosis *

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) *
  • WES comprehensive preconception carrier test *
  • WES Mendelian inherited disorders (99.9% **)
  • WES skin disorders* (99.9% **)

** % 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