NL
TP63 - acro-dermato-ungual-lacrimal-tooth (ADULT)
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > TP63 related disorders
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:
103285
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TP63 - ectrodactyly, ectodermal dysplasia, and cleft lip/palate -syndrome (EEC)
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > TP63 related disorders
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:
604292
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
