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:
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % 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 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:
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % 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 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:
- WES comprehensive preconception carrier test ¹
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % 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
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
WNT5A - 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:
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
* % 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:
180700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
