NL
TP63 - split hand/foot malformation type 4 (SHFM4)
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Split hand/foot malformation (SFHM)
This product is also part of the following panels:
- Craniofacial anomalies panel with genome wide CNV analysis
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- Premature ovarian insufficiency panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- 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:
605289
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
WNT10B - split-hand/foot malformation type 6 (SHFM6)
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Split hand/foot malformation (SFHM)
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Craniofacial anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- 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:
601906
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
