Weaver syndrome

EZH2 - Weaver syndrome

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Weaver syndrome

This product is also part of the following panels:

• Craniofacial anomalies panel with genome wide CNV analysis
• Hereditary cancer panel
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Intellectual disability 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
• Tall stature panel with genome wide CNV analysis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 277590
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---