In response to test development requests from clinicians, Connective Tissue Gene Tests now offers the following new tests:

• The TRPV4 gene for spondylometaphyseal dysplasia, Kozlowski type, metatropic dysplasia and brachyolmia type 3
• The EIF2AK3 gene for Wolcott-Rallison syndrome
• The PLOD2 gene for Bruck syndrome 2 (BRKS2)
• The SLC39A13 gene for spondylocheiro dysplastic form of Ehlers-Danlos syndrome (SCD-EDS)
• The PLEKHM1 gene for osteopetrosis, autosomal recessive (OPTB6)

Please see the updated Requisition Form.

View complete list of tests offered