NL
COL9A2 - multiple epiphysic dysplasia
This test is available for the following conditions:
- Conditions > Skeletal > Multiple epiphyseal dysplasia
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (100.0% *)
- WES hearing impairment (including GJB2) (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES vision disorders (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:
600204
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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:
- WES craniofacial anomalies (100.0% *)
- WES hearing impairment (including GJB2) (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES vision disorders (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:
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:
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (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:
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:
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (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:
606718
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
