Genetic Test Details
Connective Tissue Disease: Bone Involvement Panel
Test Information
- Title
- Connective Tissue Disease: Bone Involvement Panel
- Category
- Connective Tissue
- Sub Category
- Bone Involvement
- Gene/Platform/Region List
- ARSE, CBS, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DYM, EBP, EIF2AK3, FBN1, FBN2, FGFR3, FLNB, HSPG2, IFT122, IFT43, IFT80, LBR, LIFR, MATN3, NEK1, NKX3-2, NSDHL, PEX7, PTH1R, SHOX, SLC26A2, SLC35D1, SLC39A13, SOX9, TRAPPC2, TRIP11, TRPV4, TTC21B, WDR19, WDR35
- Test type
- Gene Panel
- Samples Accepted
- DNA , Blood
- Indications
- Diagnosis , Prenatal
- Test Methodology
- Sequencing
- Methodology Notes
- Exome
- Disease/Condition
- Achondrogenesis Ib, Achondrogenesis, type IA, Achondrogenesis, type II, Achondroplasia, hypochondroplasia, thanatophoric dysplasia, Campomelic dysplasia, CHILD syndrome, Chondrodysplasia, Chondrodysplasia punctata, Homocystinuria, Stickler type II, Congenital contractural arachnodactyly (Beal), Cranioectodermal dysplasia type 1, Cranioectodermal dysplasia type 2, Cranioectodermal dysplasia type 3, Cranioectodermal dysplasia type 4, Crouzon syndrome, Diastrophic dysplasia, Familial thoracic aortic aneurysm, type 7, Fibrillinopathies including Marfan, Fibrochondrogenesis type 2, Fibrochondrogenesis, Stickler type III, Greenberg dysplasia, Hondrodysplasia punctata, Kniest dysplasia, Langer mesomelic dysplasia, Larsen syndrome, Leri-Weill dyschondrosteosis, Marshall syndrome, Metaphyseal chondrodysplasia, Murk Jansen type, Metatropic dysplasia, Multiple epiphyseal dysplasia, type 1, Multiple epiphyseal dysplasia, type 2, Multiple epiphyseal dysplasia, type 3, Multiple epiphyseal dysplasia, type 4, Multiple epiphyseal dysplasia, type 5, Multiple epiphyseal dysplasia, type 6, Osteopetrosis, type 5, Osteopetrosis, type 6, Pelger-Huet anomaly, Pseudoachondroplasia, Rhizomelic chondrodysplasia punctata, type 1, Schneckenbecken dysplasia, Schwartz-Jampel syndrome, type 1, SED, Maroteaux type, Short-rib thoracic dysplasia type 2 with or without polydactyly, Short-rib thoracic dysplasia type 4 with or without polydactyly, Short-rib thoracic dysplasia type 5 with or without polydactyly, Short-rib thoracic dysplasia type 6 with or without polydactyly, Short-rib thoracic dysplasia type 7 with or without polydactyly, Smith-McCort dysplasia, Spondylocarpotarsal synostosis syndrome, Spondylocheirodysplasia, Ehlers-Danlos syndrome-like syndrome, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia tarda, Spondylo-megaepiphyseal-metaphyseal dysplasia, Spondylometaepiphyseal dysplasia, short limb-hand type, Stickler syndrome, Stickler syndrome, type 4, Stickler syndrome, type 5, Stickler syndrome, type 6, Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Wolcott-Rallison syndrome
Last Updated: June 23, 2025