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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:
- Craniofacial anomalies panel with genome wide CNV analysis
- 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
- 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
- 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:
- Craniofacial anomalies panel with genome wide CNV analysis
- 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
OMIM:
606062
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
