EFNB1 - craniofrontonasal syndrome ¹
This test is available for the following conditions:
- Conditions > Skeletal > Craniofrontonasal syndrome (CFNS)
This product is also part of the following panels:
- Craniofacial anomalies panel
- Mendelian inherited disorders panel
- Orofacial clefting panel
- Short stature/skeletal dysplasia panel
- 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:
300035
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane