NL
EFEMP2 - autosomal recessive cutis laxa type 1
This test is available for the following conditions:
- Conditions > Skin > Cutis laxa (elastolysis), autosomal recessive
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:
604633
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
FBLN5 - autosomal recessive cutis laxa type 1A
This test is available for the following conditions:
- Conditions > Skin > Cutis laxa (elastolysis), autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Neurological pain disorders panel¹
- Neuropathies panel¹
- 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:
604580
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PYCR1 - autosomal recessive cutis laxa type 2B
This test is available for the following conditions:
- Conditions > Skin > Cutis laxa (elastolysis), autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Mitochondrial disorders panel
- Short stature/skeletal dysplasia 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:
179035
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
