May 5, 2010 — Connective Tissue Gene Tests (CTGT) announced today that it is now offering molecular diagnostics for six additional disorders.
Asphyxiating thoracic dystrophy 2 (ATD2), asphyxiating thoracic dystrophy 3 (ATD3) and short rib-polydactyly syndrome, type III (SRPS) are autosomal recessive osteochondrodysplasias characterized by short ribs with a narrow thorax, short long bones and polydactyly. ATD2 is caused by mutations in the IFT80 gene, whereas ATD3 and SRPS are caused by mutations in the DYNC2H1 gene. The short-rib polydactyly syndromes and ATD are among the most common autosomal recessive osteochondrodysplasias.
Hereditary motor and sensory neuropathy, type IIC (HMSN2C), also known as Charcot-Marie-Tooth neuropathy, type 2C (CMT2C), scapuloperoneal spinal muscular atrophy (SPSMA) and spinal muscular atrophy, distal, congenital nonprogressive are autosomal dominant disorders of the peripheral nervous system caused by mutations in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4). Although distinct, all three disorders are characterized by proximal and distal muscle weakness and wasting.
More information can be found regarding the new tests on CTGT's web site www.ctgt.net. 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.