NL
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
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
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
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:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) 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:
607800
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) ¹
- panel nonbullous congenital ichthyosiform erythroderma (ALOX12B, ALOXE3) 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:
607206
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
184600
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) 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:
611495
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) 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:
609383
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel congenital ichthyosiform erythroderma (ALOX12B, ALOXE3, NIPAL4, PNPLA1) 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:
612121
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Skin disorders panel¹
- Vision disorders panel
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
TGM1 - lamellar ichthyosis ¹
This test is available for the following conditions:
- Conditions > Skin > Ichthyosis
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel lamellar ichthyosis (ABCA12, CYP4F22, TGM1) 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:
190195
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
