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:
- Hemostatic/thrombotic disorders panel
- Intellectual disability panel
- Mendelian inherited disorders panel
- Primary immunodeficiencies panel
- Short stature/skeletal dysplasia panel
- 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