April 28, 2011 - Connective Tissue Gene Tests (CTGT) is pleased to announce new sequencing tests for 17 connective tissue disorders, and the addition of high density targeted array (HDT) deletion / duplication tests for an additional 8 disorders. 

New Tests:

DISORDER SEQ HDT
Achondrogenesis, type IA (ACG1A)  X  
Aortic aneurysm, familial thoracic  X  
Chondrocalcinosis 2 (CCAL2)  X  
Craniometaphyseal dysplasia, autosomal dominant (CMDD)  X  
Cutis laxa, autosomal recessive, type I  X  
Ectopia lentis, isolated, autosomal recessive  X  
Ellis-van Creveld syndrome (EVC)  X  
Fibrochondrogenesis  X  X
Larsen syndrome, autosomal recessive  X  X
Spondyloepiphyseal dysplasia with congenital joint dislocations  X  X
Stickler syndrome, autosomal recessive  X  X
Stuve-Wiedemann syndrome (STWS)  X  
Treacher Collins syndrome 2 (TCS2)  X  
Treacher Collins syndrome 3 (TCS3)  X  
Trichorhinophalangeal syndrome, type I (TRPS I)  X  
Trichorhinophalangeal syndrome, type III (TRPS III)  X  
Weyers acrofacial dysostosis  X  

 

New deletion / duplication tests:

DISORDER
Desbuquois dysplasia (DBQD)
Dyggve-Melchior-Clausen disease (DMC)
Glomuvenous malformations (GVM)
Smith-McCort dysplasia (SMC)
Three M syndrome 1 (3M1)
Three M syndrome 2 (3M2)
Torg-Winchester syndrome
Weill-Marchesani syndrome (WMS), autosomal recessive

The new tests may be ordered using the requisition forms 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 web site.

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