LIFR - Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel
- Neurological pain disorders panel¹
- Short stature/skeletal dysplasia panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601559
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane