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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:
- WES craniofacial anomalies (99.9% *)
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES orofacial clefting (99.9% *)
- WES primary immunodeficiencies (99.9% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
