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:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
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:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
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
