MYCN - Feingold syndrome
This test is available for the following conditions:
- Conditions > Intellectual Disability > Oculo-digito-esophageal-duodenal syndrome (Feingold)
- Conditions > Multiple congenital anomalies (MCA) > Oculo-digito-esophageal-duodenal syndrome (Feingold)
This product is also part of the following panels:
- WES fetal akinesia (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
* % 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:
164280
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane