RNU4ATAC - microcephalic osteodysplastic primordial dwarfism, type 1 ¹

This test is available for the following conditions:

  • Conditions > Skeletal > Microcephalic osteodysplastic primordial dwarfism

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hemostatic/thrombotic disorders panel
  • Intellectual disability panel with genome wide CNV analysis
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Primary immunodeficiencies panel
  • Renal disorders panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Skin disorders panel¹
  • Vision disorders panel

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
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Gene

RNU4ATAC - microcephalic osteodysplastic primordial dwarfism, type 1 ¹

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

RNU4ATAC - microcephalic osteodysplastic primordial dwarfism, type 1 ¹


€ 320
Add