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:

  • Comprehensive preconception carrier test panel¹
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • Primary immunodeficiencies panel
  • Severe combined immunodeficiency (SCID) panel
  • Short stature/skeletal dysplasia panel
  • Skin disorders panel¹

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

Gene

RMRP - cartilage-hair hypoplasia

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

RMRP - cartilage-hair hypoplasia



€ 320