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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 / developmental delay 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
KMT2D (MLL2) - Kabuki syndrome, type 1¹
This test is available for the following conditions:
- Conditions > Intellectual Disability > Kabuki syndrome
- Conditions > Multiple congenital anomalies (MCA) > Kabuki syndrome
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602113
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
