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New Products: CTGT Adds High-density Targeted Array Testing for 10 Disorders


Connective Tissue Gene Tests this week introduced high-density targeted array deletion/duplication testing for 10 disorders, adding to 164 disorders for which it already tests.

CTGT now offers array-based testing for the following:

acromesomelic dysplasia, Maroteaux type, an autosomal recessive skeletal dysplasia caused by loss-of-function mutations in the natriuretic peptide receptor B gene;

arterial calcification, generalized, of infancy, 1, an autosomal recessive disorder characterized by calcification of arteries caused by mutations in the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene;

brittle cornea syndrome 1 and 2, autosomal recessive disorders caused by mutations in the zinc finger 469 gene and PR domain-containing protein 5 genes, respectively;

cranioectodermal dysplasia 2, an autosomal recessive ciliopathy characterized by sagittal craniosynostosis, skeletal, facial, and ectodermal abnormalities caused by mutations in at least two genes, WDR35 and IFT122;

musculocontractural type Ehlers-Danlos syndrome, an autosomal recessive variant of Ehlers-Danlos syndrome caused by mutations in the carbohydrate sulfotransferase 14 gene;

exostoses, multiple, types I and II, autosomal dominant disorders characterized by multiple osteochondromas , benign, cartilage-capped bone tumors, caused by mutations in two genes, exostosin 1 and exostosin 2;

hypophosphatemic rickets, autosomal dominant, a disorder characterized by renal phosphate wasting caused by mutations in the fibroblast growth factor 23 gene;

short rib-polydactyly syndromes, types III and V, and asphyxiating thoracic dystrophy 2 and 3, autosomal recessive osteochondrodysplasias characterized by short ribs with a narrow thorax, short long bones and polydactyly; and

three M syndrome 1, 2 and 3,, autosomal recessive disorders characterized by pre- and postnatal growth retardation caused by mutations in the CUL7, OBSL1, or CCDC8 genes.

CTGT charges $1,190 for testing a gene and an additional $590 for any second gene analyzed.

CTGT's services are offered on its High-Density Targeted Array, a custom designed Agilent Technologies G3 SurePrint microarray. The firm began offering array-based testing in 2010.