RMRP - cartilage-hair hypoplasia
This test is available for the following conditions:
- Conditions > Oncogenetics > Cartilage-hair hypoplasia
- Conditions > Skeletal > Cartilage-hair hypoplasia
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hereditary cancer (% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES primary immunodeficiencies (% *)
- WES severe combined immunodeficiency (SCID) (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
* % 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
The RMRP gene is a noncoding gene and is not well-covered in WES data.
OMIM:
250250
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane