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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES skin disorders¹ (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:
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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (91.8% *)
- WES neurological pain disorders¹ (91.8% *)
- WES neuropathies¹ (91.8% *)
- WES skin disorders¹ (91.8% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (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:
179035
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
