PORCN - Focal dermal hypoplasia ¹
This test is available for the following conditions:
- Conditions > Skin > Focal dermal hypoplasia
This product is also part of the following panels:
- Craniofacial anomalies panel
- Intellectual disability 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
OMIM:
305600
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane