NL
ACAN - spondyloepimetaphyseal dysplasia type aggrecan
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Spondyloepimetaphysal dysplasia
- Conditions > Skeletal > Spondyloepimetaphysal dysplasia
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (99.0% *)
- WES short stature/skeletal dysplasia (99.0% *)
* % 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:
155760
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GPX4 - Spondylometaphyseal dysplasia, type Sedaghatian ¹
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Spondyloepimetaphysal dysplasia
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES short stature/skeletal dysplasia (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:
138322
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
