November 9, 2009 — Connective Tissue Gene Tests (CTGT) is pleased to announce the availability of molecular diagnostics for eight additional disorders. This increases the company's repertoire for inherited connective tissue disorders to more than 90 tests.
Seven of the new tests are for disorders caused by mutations in the FLNA gene, including:
- Periventricular heterotopia, X-linked dominant (PVNH1; MIM 300049)
- Otopalatodigital syndrome, type I (OPD1; MIM 311300)
- Otopalatodigital syndrome, type II (OPD2; MIM 304120)
- Frontometaphyseal dysplasia (FMD; MIM 305620)
- Melnick-Needles syndrome (MNS; MIM 309350)
- Cardiac valvular dystrophy, X-linked (CVD1; MIM 314400)
- Periventricular heterotopia, Ehlers-Danlos variant (PVNH4; MIM 300537)
The eighth new test is for a disorder caused by mutations in the SOX9 gene:
- Campomelic dysplasia (CMPD; MIM 114290)
As new tests are added frequently, CTGT advise clients to download the latest requisition forms from the CTGT web site often. The forms are available on the Requisition Form page.