HRAS - Costello syndrome
This test is available for the following conditions:
- Conditions > Intellectual Disability > Costello syndrome
- Conditions > Multiple congenital anomalies (MCA) > Costello syndrome
This product is also part of the following panels:
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES Noonan syndrome / RASopathy (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
- WES vision disorders (% *)
* % 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 & Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
218040
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane