February 12, 2014 - Connective Tissue Gene Tests (CTGT) is pleased to announce 33 new tests.

\DNA DNA Sequencing   \DeletionDeletion / Duplication: HDT Array   \Panel: Comprehensive testing: DNA Sequencing & HDT Array 

Tests & Panels Gene MIM Methods
Achondroplasia (ACH) / Hypochondroplasia (HCH) 
NEW: Deletion / Duplication testing added!
FGFR3 100800 & 146000 \DNA\Deletion\Sequencing
Aortic aneurysm, familial thoracic 8 (AAT8) PRKG1 615436 \DNA\Deletion\Sequencing
Brachyolmia type 3 
NEW: Deletion / Duplication testing added!
TRPV4 113500 \DNA\Deletion\Sequencing
Cutaneomucosal venous malformations (VMCM) TEK 600195 \DNA\Deletion\Sequencing
Cutis laxa, autosomal recessive (ARCL) IA / IB / IC / IIA / IIB / IIIA / IIIB FBLN5, EFEMP2, LTBP4, ATP6V02A, PYCR1 & ALDH18A1 219100, 614437, 613177, 219200, 612940, 219150 & 614438 \DNA\Deletion\Sequencing
Cutis laxa, autosomal recessive IC (ARCL1C) LTBP4 613177 \DNA\Deletion\Sequencing
Cutis laxa, autosomal recessive IIA (ARCL2A) ATP6V0A2 219200 \DNA\Deletion\Sequencing
Cutis laxa, autosomal recessive IIB (ARCL2B) PYCR1 612940 \DNA\Deletion\Sequencing
Cutis laxa, autosomal recessive IIIA (ARCL3A) ALDH18A1 219150 \DNA\Deletion\Sequencing
Cutis laxa, autosomal recessive IIIB (ARCL3B) PYCR1 614438 \DNA\Deletion\Sequencing
Digital arthropathy-brachydactyly, familial (FDAB) 
NEW: Deletion / Duplication testing added!
TRPV4 606835 \DNA\Deletion\Sequencing
Ehlers-Danlos syndrome, spondylocheiro dysplastic form (SCD-EDS) 
NEW: Deletion / Duplication testing added!
SLC39A13 612350 \DNA\Deletion\Sequencing
Glomuvenous malformations (GVM) and Cutaneomucosal venous malformations (VMCM) GLMN & TEK 138000 & 600195 \DNA\Deletion\Sequencing
Hereditary Hemorrhagic telangiectasia type 1 (HHT1) / 2 (HHT2) / 5 (HHT5) / SMAD4 related ENG, ACVRL1, GDF2 & SMAD4 187300, 600376, 615506 & 175050 \DNA\Deletion\Sequencing
Hereditary hemorrhagic telangiectasia type 5 (HHT5) GDF2 615506 \DNA\Deletion\Sequencing
Hereditary motor and sensory neuropathy, type IIC, (HMSN2C) 
NEW: Deletion / Duplication testing added!
TRPV4 606071 \DNA\Deletion\Sequencing
Hyperparathyroidism, neonatal severe (NSHPT) CASR 239200 \DNA\Deletion\Sequencing
Hypocalcemia, autosomal dominant 1 (HYPOC1) CASR 601198 \DNA\Deletion\Sequencing
Hypocalcemia, autosomal dominant 1, with Bartter syndrome CASR 601198 \DNA\Deletion\Sequencing
Hypocalciuric hypercalcemia, familial, type 1 (HHC1) CASR 145980 \DNA\Deletion\Sequencing
Metatropic dysplasia 
NEW: Deletion / Duplication testing added!
TRPV4 156530 \DNA\Deletion\Sequencing
Parastremmatic dwarfism 
NEW: Deletion / Duplication testing added!
TRPV4 168400 \DNA\Deletion\Sequencing
Scapuloperoneal spinal muscular atrophy (SPSMA) 
NEW: Deletion / Duplication testing added!
TRPV4 181405 \DNA\Deletion\Sequencing
Short rib-polydactyly syndrome, type VI (SRPS6) WDR60 615503 \DNA\Deletion\Sequencing
Spinal muscular atrophy, distal, X-linked 3 (SMAX3) 
NEW: Deletion / Duplication testing added!
ATP7A 300489 \DNA\Deletion\Sequencing
Spondylocostal dysostosis 1 / 2 / 3 / 4, autosomal recessive (SCDO1 / SCDO2 / SCDO3 / SCDO4 /) & spondylocostal dysostosis, autosomal dominant DLL3, MESP2, LFNG, HES7 & TBX6 277300, 608681, 609813 & 613686 \DNA\Deletion\Sequencing
Spondylocostal dysostosis, autosomal dominant TBX6   \DNA\Deletion\Sequencing
Spondyloepiphyseal dysplasia, Maroteaux type 
NEW: Deletion / Duplication testing added!
TRPV4 184095 \DNA\Deletion\Sequencing
Spondylometaphyseal dysplasia, Kozlowski type (SMDK) 
NEW:  Deletion / Duplication testing added!
TRPV4 184252 \DNA\Deletion\Sequencing
Thanatophoric dysplasia, type I / II (TD1 / TD2) 
NEW:  Deletion / Duplication testing added!
FGFR3 187600 & 187601 \DNA\Deletion\Sequencing
Weill-Marchesani-like syndrome (WMSL) ADAMTS17 613195 \DNA\Deletion\Sequencing
Weill-Marchesani syndrome 1 / 2 / 3 (WMS1 / WMS2 / WMS3) & Weill- Marchesani-like syndrome (WMSL) ADAMTS10, FBN1, LTBP2 & ADAMTS17 277600, 608328, 614819 & 613195 \DNA\Deletion\Sequencing
Weill-Marchesani syndrome 3 (WMS3) LTBP2 614819 \DNA\Deletion\Sequencing

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