NL
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:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel
- Mendelian inherited disorders panel
- Metabolic disorders panel
- Orofacial clefting panel
- Short stature/skeletal dysplasia panel
- 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:
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:
- Fetal akinesia panel
- Mendelian inherited disorders panel
- Muscle disorders panel
- Neurological pain disorders panel¹
- Neuropathies panel¹
- Short stature/skeletal dysplasia panel
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
