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:
- WES craniofacial anomalies (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES orofacial clefting (99.9% *)
- WES short stature/skeletal dysplasia (99.9% *)
- WES skin disorders¹ (99.9% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES craniofacial anomalies (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES orofacial clefting (99.9% *)
- WES short stature/skeletal dysplasia (99.9% *)
- WES skin disorders¹ (99.9% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
