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:

  • WES congenital heartdisease ¹ (94.2% **)
  • WES epilepsy (94.2% **)
  • WES heart disorders¹ (94.2% **)
  • WES intellectual disability (94.2% **)
  • WES Mendelian inherited disorders (94.2% **)

** % 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
  • Deletion/duplication analysis (MLPA)

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




€ 805

Gene

EHMT1 - Kleefstra syndrome

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

EHMT1 - Kleefstra syndrome



€ 805