Gene

RNU4ATAC - microcephalic osteodysplastic primordial dwarfism, type 1 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
*Maastricht UMC+
€ 320

RNU4ATAC - microcephalic osteodysplastic primordial dwarfism, type 1 *



€ 320

RNU4ATAC - microcephalic osteodysplastic primordial dwarfism, type 1 *

This test is available for the following conditions:

  • Conditions > Skeletal > Microcephalic osteodysplastic primordial dwarfism

This product is also part of the following panels:

  • WES Mendelian inherited disorders (% **)
  • WES primary immunodeficiencies (% **)
  • WES short stature/skeletal dysplasia (% **)
  • WES skin disorders* (% **)

** % 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

OMIM: 601428
Performing laboratory: *Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 320