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
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
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Gene

RMRP - cartilage-hair hypoplasia

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

RMRP - cartilage-hair hypoplasia


€ 320
Add