Gene

RMRP - cartilage-hair hypoplasia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 320

RMRP - cartilage-hair hypoplasia



€ 320

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 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
Remarks
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




€ 320