NL
NIPBL - Cornelia de Lange syndrome, type 1
This test is available for the following conditions:
- Conditions > Intellectual Disability > Cornelia de Lange syndrome
- Conditions > Multiple congenital anomalies (MCA) > Cornelia de Lange syndrome
This product is also part of the following panels:
- WES craniofacial anomalies (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% *)
- 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
- Deletion/duplication analysis (MLPA)
OMIM:
608667
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SMC3 - Cornelia de Lange syndrome 3
This test is available for the following conditions:
- Conditions > Intellectual Disability > Cornelia de Lange syndrome
- Conditions > Multiple congenital anomalies (MCA) > Cornelia de Lange syndrome
This product is also part of the following panels:
- WES craniofacial anomalies (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
OMIM:
606062
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
