NL
DVL1 - Robinow syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Robinow syndrome
- Conditions > Skeletal > Robinow syndrome
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting 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 selected exons and flanking intron-exon boundaries
Only exon 14 of the DVL1 gene will be tested, since all reported (activating) mutations are located in the penultimate exon (exon 14) of the DVL1 gene (White et al., Am J Hum Genet. 2015 Apr 2;96(4):612-22).
OMIM:
601365
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
DVL3 - Robinow syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Robinow syndrome
- Conditions > Skeletal > Robinow syndrome
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting 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 selected exons and flanking intron-exon boundaries
OMIM:
601368
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ROR2 - Robinow syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Robinow syndrome
- Conditions > Skeletal > Robinow 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
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting 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
Deletions/duplications are rare and can be detected with high resolution SNP array. This test can be requested seperately.
OMIM:
268310
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
