EHMT1 - Kleefstra syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Kleefstra syndrome (Chr 9q deletion)
  • Conditions > Multiple congenital anomalies (MCA) > Kleefstra syndrome (Chr 9q deletion)

This product is also part of the following panels:

  • Congenital heartdisease panel¹
  • Epilepsy panel
  • Heart disorders panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis

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

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Deletion/duplication analysis (MLPA)

OMIM: 610253
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 805
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Gene

EHMT1 - Kleefstra syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 805
View Add

EHMT1 - Kleefstra syndrome


€ 805
Add