B3GALT6 - spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
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 intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES orofacial clefting (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
* % 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:
615291
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TRPV4 - Kozlowski type of spondylometaphyseal dysplasia
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 fetal akinesia (% *)
- WES Mendelian inherited disorders (% *)
- WES muscle disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES neuropathies¹ (% *)
- WES short stature/skeletal dysplasia (% *)
* % 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:
605427
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane