Wiedemann-Steiner syndrome

KMT2A - Wiedemann-Steiner syndrome

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Wiedemann-Steiner syndrome
• Conditions > Skeletal > Wiedemann-Steiner syndrome

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

Method

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

OMIM: 159555
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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