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:
- 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:
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:
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
* % 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:
601906
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
