Microcephalic osteodysplastic primordial dwarfism type I is caused by biallelic mutations in the RNU4ATAC gene. It consists of severe skeletal dysplasia characterized by dwarfism, microcephaly, and neurological abnormalities, such as mental retardation, brain malformations, and ocular/auditory sensory deficits.
Microcephalic osteodysplastic primordial dwarfism type I: <1 / 1,000,000 (ORPHA:2636).
The RNU4ATAC gene is not covered by the exome solution currently used in our company. Therefore, if there is clinical suspicion of the disease, it is recommended to request this specific service.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
3) Pack the sample
Please pack the sample in a way to prevent leakage
4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-202211194
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
Microcephalic osteodysplastic primordial dwarfism type I
