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



€ 534
Add
Go to main content
Gene

KDM6A - Kabuki syndrome, type 2 ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 534
View Add

KDM6A - Kabuki syndrome, type 2 ¹


€ 534
Add
Gene

KMT2D (MLL2) - Kabuki syndrome, type 1¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 772
View Add

KMT2D (MLL2) - Kabuki syndrome, type 1¹


€ 772
Add

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



€ 772
Add