SMAD4 - Myhre syndrome
This test is available for the following conditions:
- Conditions > Intellectual Disability > Myhre syndrome
This product is also part of the following panels:
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- WES hereditary cancer (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES orofacial clefting (% *)
- WES short stature/skeletal dysplasia (% *)
* % 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 selected exons and flanking intron-exon boundaries
OMIM:
600993
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane