Kabuki syndrome

KDM6A - Kabuki syndrome, type 2 ¹

This test is available for the following conditions:

• Conditions > Intellectual Disability > Kabuki syndrome
• Conditions > Multiple congenital anomalies (MCA) > Kabuki syndrome

This product is also part of the following panels:

• Craniofacial anomalies panel with genome wide CNV analysis
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Orofacial clefting panel with genome wide CNV analysis
• Primary immunodeficiencies panel

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

Method

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

OMIM: 300128
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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