NL
COL9A3 - multiple epiphyseal dysplasia type 3
This test is available for the following conditions:
- Conditions > Skeletal > Multiple epiphyseal dysplasia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Craniofacial anomalies panel with genome wide CNV analysis
- Hearing impairment panel (including GJB2)
- Mendelian inherited disorders panel with genome wide CNV analysis
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- 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
OMIM:
600969
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC26A2 - multiple epiphyseal dysplasia ¹
This test is available for the following conditions:
- Conditions > Skeletal > Multiple epiphyseal dysplasia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Craniofacial anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- 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:
606718
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC26A2 - multiple epiphyseal dysplasia type 4
This test is available for the following conditions:
- Conditions > Skeletal > Multiple epiphyseal dysplasia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Craniofacial anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- 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:
606718
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
