May 20, 2014 - Connective Tissue Gene Tests (CTGT) is pleased to announce 2 new NGS panels and 18 new sequencing/del/dup tests

 View all new tests.

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

Tests & Panels Gene MIM Methods    
Cantu syndrome ABCC9 239850 \DNA\Deletion\Sequencing
Craniodiaphyseal dysplasia, autosomal dominant (CDD) SOST 122860 \DNA\Deletion\Sequencing
Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) COL7A1 131750 \DNA\Deletion\Sequencing
Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) COL7A1 226600 \DNA\Deletion\Sequencing
Fibrodysplasia ossificans progressiva (FOP) ACVR1 135100 \DNA\Deletion\Sequencing
Genitopatellar syndrome (GTPTS) KAT6B 606170 \DNA\Deletion\Sequencing
Gracile bone dysplasia (GCLEB) FAM111A 602361 \DNA\Deletion\Sequencing
Hyperostosis corticalis generalisata (Van Buchem disease) SOST 239100 \DNA\Deletion\Sequencing
Kenny-Caffey syndrome, type 2 (KCS2) FAM111A 127000 \DNA\Deletion\Sequencing
Metaphyseal dysplasia, Spahr type MMP13 250400 \DNA\Deletion\Sequencing
Ohdo syndrome, SBBYS variant (SBBYSS) KAT6B 603736 \DNA\Deletion\Sequencing
Osteopathia striata with cranial sclerosis (OSCS) AMER1 300373 \DNA\Deletion\Sequencing
Robinow syndrome, autosomal dominant (DRS) WNT5A 180700 \DNA\Deletion\Sequencing
Robinow syndrome, autosomal dominant (DRS) and autosomal recessive (RRS) WNT5A & ROR2 180700 & 268310 \DNA\Deletion\Sequencing
Robinow syndrome, autosomal recessive (RRS) ROR2 268310 \DNA\Deletion\Sequencing
Sclerosteosis SOST 269500 \DNA\Deletion\Sequencing
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) ACP5 607944 \DNA\Deletion\Sequencing
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) PCYT1A 608940 \DNA\Deletion\Sequencing

 

 

Tests & Panels Genes
Ehlers-Danlos syndrome panel - Dominant & Recessive  ATP7A / CHST14 / COL1A1 / COL1A2 / COL3A1 / COL5A1 / COL5A2 / FKBP14 / PLOD1 / SLC39A13  
Ichthyosis panel - Nonsyndromic  ABCA12 / ALOX12B / ALOXE3 / CYP4F22 / FLG / GJB3 / GJB4 / KRT1 / KRT10 / KRT2 / LIPN / LOR / NIPAL4 / PNPLA1 / POMP / STS / TGM1

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