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Connective Tissue Disease: Bone Involvement Panel

Alternate test name
CT: Bone Involvement Panel
Gene name / Alternate 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 Names

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

Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Sequencing (all genes) by Next Generation Sequencing. Deletion & Duplication analysis by exon targeted microarray. 
Expected turn-around time
Prenatal samples/Pregnancy/STAT: 3 weeks Routine: 8 weeks
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).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Blood-Room Temperature. Please contact the Genome Diagnostics Laboratory if you want to send gDNA.

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.  

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
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
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