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Paediatric Laboratory Medicine

Connective Tissue Disease: Bone Involvement


See related pages for information sheets on Conective Tissue Diseases: with Bone Involvement

Clinical Significance

See related pages for information sheets on Conective Tissue Diseases: with bone involvment

Test Name

Connective Tissue Disease: Bone Involvement

Alternate Name/ Synonym

CT: Bone Involvement Panel

Gene Name

  • ARSE
  • CBS
  • COL11A1
  • COL11A2
  • COL2A1
  • COL9A1
  • COL9A2
  • COMP
  • COL9A3
  • DYM
  • DDR2
  • EIF2AK3
  • EBP
  • FBN1
  • FBN2
  • FGFR3
  • FLNB
  • HSPG2
  • IFT122
  • IFT43
  • IFT80
  • LBR
  • LIFR
  • MATN3
  • NEK1
  • NKX3-2
  • PEX7
  • PTH1R
  • SLC26A2
  • SLC35D1
  • SHOX
  • SLC39A13
  • SOX9
  • TRIP11
  • TRPV4
  • TTC21B
  • WDR19
  • WDR35

Alternate Gene Name

CDPX, CDPX1, HIP4, COLL6, STL2, CO11A1, DFNA13, DFNB53, HKE5, SEDC, AOM, STL1, EDM2, MED, IDD, MED, EDM3, FLJ90759, DJ885L7.4.1, TYRO10, NTRKR3, TKT, CDPX2, CPX, CPXD, CHO2, FBN, MFS1, WMS, MASS, OCTD, SGS, CCA, DA9, ACH, CEK2, JTK4, CD333, FLN1L, LRS1, TAP, TABP, ABP-278, FH1, SJS1, perlecan, PRCAN, WDR10, WDR140, WDR10p, SPG, C14orf179, FLJ32173, MGC16028, WDR56, KIAA1374, DHCR14B, TDRD18, CD118, NY-REN-55, KIAA1901, XAP104, H105e3, SDR31E1, PTS2R, RD, PTHR, PTHR1, DTD, DTDST, UGTREL7, KIAA0260, FLJ25785, CMD1, CMPD1, SRA1, CEV14, Trip230, GMAP-210, OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C, FLJ11457, JBTS11, NPHP12, IFT139, Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13, MGC33196, KIAA1336, IFT121, IFTA1, PSACH, EDM1, EPD1, MED, THBS5, FLJ20071, DMC, SMC, PEK, PERK, EDM5, HOA, BAPX1, NKX3B, NKX3.2, PHOG, GCFX, SS, SHOXY, SEDL, TRS20, SEDT, MIP-2A, ZNF547L, hYP38334, SART2, DSEPI, PSACH, EDM1, EPD1, MED, THBS5, CRTM, CMP, EDM5, HOA

Test Code

CT-Panel 4


Molecular Genetics


Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel. Please see Connective Tissue Disease: Deletion & Duplication analysis

External Proficiency Testing


Turn Around Time

3-4 weeks (Prenatal), 4-6 weeks (Pregnant or Urgent), 8-10 weeks (Routine)


  • 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

Specimen Type

Blood; please contact the Genome Diagnostics Laboratory if you want to send gDNA.  If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate); minimum 10 ug of DNA in 100 uL low TE (pH8.0)


If sample shipment  >48 hours, ship on ice.

Special Requirements

Special Instructions for Genome Diagnostics Samples

Please ship us the blood sample within 48 hours of collection.  


Provided with report