September 5, 2012 - Connective Tissue Gene Tests (CTGT) is pleased to announce 3 new sequencing tests / panels and 24 Deletion / Duplication tests for inherited connective tissue disorders.

\DNA DNA Sequencing   \DeletionDeletion / Duplication: HDT Array 

New Tests:

Alagille syndrome 1 (ALGS1) 
NEW: Deletion / Duplication testing added!
JAG1 \DNA\\\Deletion
Alport syndrome, X-linked (ATS) COL4A5 \DNA\\\Deletion
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3), SMAD3 & TGFB2 related TGFBR1, TGFBR2, SMAD3 & TGFB2 \DNA\\\\
Aortic aneurysm, familial thoracic, SMAD3 related   
NEW: Deletion / Duplication testing added!
SMAD3 \DNA\\\Deletion
Aortic aneurysm, familial thoracic, TGFB2 related TGFB2 \DNA\\
Apert syndrome 
NEW: Deletion / Duplication testing added!
FGFR2 \DNA\\\Deletion
Asphyxiating thoracic dystrophy 4 (ATD4) 
NEW: Deletion / Duplication testing added!
TTC21B \DNA\\\Deletion
Asphyxiating thoracic dystrophy 5 (ATD5) 
NEW: Deletion / Duplication testing added!
WDR19 \DNA\\\Deletion
Buschke-Ollendorff syndrome (BOS) 
NEW: Deletion / Duplication testing added!
LEMD3 \DNA\\\Deletion
Cranioectodermal dysplasia 4 (CED4) 
NEW: Deletion / Duplication testing added!
WDR19 \DNA\\\Deletion
Craniosynostosis, type 1 (CRS1) 
NEW: Deletion / Duplication testing added!
TWIST1 \DNA\\\Deletion
Exudative vitreoretinopathy 4 (EVR4) 
NEW: Deletion / Duplication testing added!
LRP5 \DNA\\\Deletion
FGFR2 related craniosynostosis 
NEW: Deletion / Duplication testing added!
FGFR2 \DNA\\\Deletion
Focal dermal hypoplasia (FDH) 
NEW: Deletion / Duplication testing added!
PORCN \DNA\\\Deletion
Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus 
NEW: Deletion / Duplication testing added!
LRP5 \DNA\\\Deletion
Loeys-Dietz syndrome, type1C (LDS1C) 
NEW: Deletion / Duplication testing added!
SMAD3 \DNA\\\Deletion
Menkes disease (MK) 
NEW: Deletion / Duplication testing added!
ATP7A \DNA\\\Deletion
Metaphyseal anadysplasia 1 (MANDP1) 
NEW: Deletion / Duplication testing added!
MMP13 \DNA\\\Deletion
Occipital horn syndrome (OHS) 
NEW: Deletion / Duplication testing added!
ATP7A \DNA\\\Deletion
Osteopetrosis, autosomal dominant 1 (OPTA1) 
NEW: Deletion / Duplication testing added!
LRP5 \DNA\\\Deletion
Osteoporosis-pseudoglioma syndrome (OPPG) 
NEW: Deletion / Duplication testing added!
LRP5 \DNA\\\Deletion
Saethre-Chotzen syndrome (SCS) 
NEW: Deletion / Duplication testing added!
TWIST1 & FGFR3 \DNA\\\Deletion
Short rib-polydactyly syndrome, type II (SRPS2) 
NEW: Deletion / Duplication testing added!
NEK1 \DNA\\\Deletion
Spinal muscular atrophy, distal, X-linked 3 (SMAX3) 
NEW: Deletion / Duplication testing added!
ATP7A \DNA\\\Deletion
Spondyloepimetaphyseal dysplasia, Missouri type (SEMD, Missouri type) 
NEW: Deletion / Duplication testing added!
MMP13 \DNA\\\Deletion
Van Buchem disease, type 2 (VBCH2) 
NEW: Deletion / Duplication testing added!
LRP5 \DNA\\\Deletion

 

 

The new tests may be ordered using the requisition forms on CTGT's web site. As new tests are added frequently, CTGT advises clients to regularly download the latest requisition forms from our Requisition Forms page on the web site.

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