NL
POLR1A - acrofacial dysostosis, Cincinnati type
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Acrofacial dysostosis
This product is also part of the following panels:
- 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:
616462
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SF3B4 - acrofacial dysostosis type 1, Nager type
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Acrofacial dysostosis
This product is also part of the following panels:
- Craniofacial anomalies 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:
154400
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
