Microcephalic osteodysplastic primordial dwarfism

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:

• WES hemostatic/thrombotic disorders (% *)
• WES intellectual disability (% *)
• WES Mendelian inherited disorders (% *)
• WES primary immunodeficiencies (% *)
• 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

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

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