TP63 related disorders

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
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Mendelian inherited disorders panel
• Orofacial clefting panel
• Premature ovarian insufficiency panel
• Short stature/skeletal dysplasia panel
• 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

---