NL
FGF9 - multiple synostoses syndrome
This test is available for the following conditions:
- Conditions > Hearing impairment > Multiple synostosis syndrome
- Conditions > Skeletal > Multiple synostosis syndrome
This product is also part of the following panels:
- Craniofacial anomalies panel with genome wide CNV analysis
- 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:
600921
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GDF5 - multiple synostoses syndrome
This test is available for the following conditions:
- Conditions > Hearing impairment > Multiple synostosis syndrome
- Conditions > Skeletal > Multiple synostosis syndrome
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
- 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:
601146
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NOG - multiple synostoses syndrome
This test is available for the following conditions:
- Conditions > Hearing impairment > Multiple synostosis syndrome
- Conditions > Skeletal > Multiple synostosis syndrome
This product is also part of the following panels:
- 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
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602991
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
