FGFR3 - hypochondroplasia ¹
This test is available for the following conditions:
- Conditions > Intellectual Disability > Hypochondroplasia
This product is also part of the following panels:
- Craniofacial anomalies panel
- Hearing impairment panel (including GJB2)
- Intellectual disability panel
- Mendelian inherited disorders panel
- Short stature/skeletal dysplasia panel
- Skin disorders panel¹
- Tall stature panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
134934
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane