NL
CCDC8 - 3M syndrome type 3
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > 3M 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
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
20105
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CUL7 - 3M syndrome type 1
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > 3M Syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- 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:
609577
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
OBSL1 - 3M syndrome-2
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > 3M Syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- 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:
610991
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
