June 29, 2010 – Connective Tissue Gene Tests (CTGT) announced DNA sequencing testing for three additional disorders today, and simultaneously announced the availability of its proprietary High-Density Targeted Array testing methodology for an additional twenty-two (22) inherited connective tissue disorders.
DNA Sequencing tests are now available for:
Brachyolmia type 2 (MIM 184095), which is caused by mutations is the TRPV4 gene. Brachyolmia type 2, also known as spondyloepiphyseal dysplasia, Maroteaux type, is an autosomal dominant skeletal dysplasia. Affected individuals have a normal birth weight and length but display progressive shortening of the trunk resulting in extreme short stature. Additional findings include platyspondyly, brachydactyly, genu valgum, broad pelvis, enlarged joints and dysplastic changes of the femoral neck.
Three M syndrome 1 (3M1, MIM 273750) and Three M syndrome 2 (3M2, MIM 612921) are autosomal recessive disorders characterized by pre- and postnatal growth retardation, a large head circumference, and a characteristic facial appearance including a pointed triangular shaped face, frontal bossing, a short upturned nose with anteverted nares and full lips. To date, mutations in the CUL7 (cullin 7) and OBSL1 (obscurin-like 1) genes have been linked to 3M1 and 3M2, respectively.
In addition to DNA Sequencing tests, CTGT now offers its proprietary High-Density Targeted (HDT) Array methodology to provide highly-sensitive CNV testing for the following disorders:
- Asphyxiating thoracic dystrophy 2 (ATD2)
- Asphyxiating thoracic dystrophy 3 (ATD3)
- Bethlem myopathy
- Capillary malformation-arteriovenous malformation
- Cardiac valvular dystrophy, X-linked (CVD1)
- Dyssegmental dysplasia, Silverman-Handmaker type (DDSH)
- Frontometaphyseal dysplasia (FMD)
- Melnick-Needles syndrome (MNS)
- Osteopetrosis, autosomal dominant 2 (OPTA2)
- Osteopetrosis, autosomal recessive (OPTB4)
- Osteopetrosis, autosomal recessive (OPTB2)
- Osteopetrosis, autosomal recessive (OPTB7)
- Otopalatodigital syndrome type I (OPD1)
- Otopalatodigital syndrome type II (OPD2)
- Parkes Weber syndrome (PKWS)
- Periventricular heterotopia, Ehlers-Danlos variant (PVNH4)
- Periventricular nodular heterotopia, X-linked dominant (PVNH1)
- Schwartz-Jampel syndrome, type 1 (SJS1)
- Short rib-polydactyly syndrome, type III (SRPS)
- Treacher Collins syndrome (TCS)
- Ullrich congenital muscular dystrophy
- Wolcott-Rallison syndrome
More information regarding all tests can be found on CTGT's web site. As new tests are added frequently, CTGT advise clients to regularly download the latest requisition forms from the Requisition Forms page on the CTGT web site.
Connective Tissue Gene Tests is dedicated to providing the worlds most comprehensive set of highly-sensitive molecular diagnostics for inherited disorders affecting connective tissues. Located in the United States in Allentown, PA, CTGT helps health care professionals to accurately diagnose and improve quality of care for people with inherited connective tissue disorders.