What Can Be Learned From This Test
Testing is performed by sequencing the entire coding region of TRPV4. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
Partial sequencing in regions known to carry mutations can be carried out; please note on submission form if this tiered approach is being requested.
TRPV4 is the only gene known to be associated with these specific disorders. There are other types of spondylometaphyseal dysplasia and brachyolmia that are not associated with mutations in TRPV4. A negative test does not rule out a genetic cause of a skeletal dysplasia, as there are many other genes associated with different types of skeletal dysplasias.
Certain mutations in TRPV4 have been associated with three specific types of autosomal dominant neuromuscular disorders. One of these mutations may be identified during this test. This will be reported to the ordering provider.
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