NHS - Nance-Horan syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Nance-Horan Syndrome
- Conditions > Vision impairment / blindness > Nance-Horan Syndrome
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
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
300457
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane