What Can Be Learned From This Test
Testing is performed by sequencing the entire RNU4ATAC gene and surrounding regions. This will detect point mutations, small deletions and small insertions. It will not detect a whole gene deletion or duplication.
RNU4ATAC is the only gene known to be associated with microcephalic osteodysplastic primordial dwarfism, type I (MOPD I). A negative test does not rule out a diagnosis of MOPD I since a mutation could be in a region not sequenced or in another gene.
Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turnaround time: 10-14 business days
CPT Codes and Cost
Full Gene Sequencing
Known Variant Testing