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 (99.9% *)
- WES epilepsy (99.9% *)
- WES heart disorders¹ (99.9% *)
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (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
- Deletion/duplication analysis (MLPA)
OMIM:
610253
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane