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Paediatric Laboratory Medicine

Connective Tissue Disease: Osteogenesis Imperfecta Panel

Background

See related pages for information sheets on Conective Tissue Diseases: Osteogenesis Imperfecta

Clinical Significance

See related pages for information sheets on Conective Tissue Diseases: Osteogenesis Imperfecta

Test Name

Connective Tissue Disease: Osteogenesis Imperfecta Panel

Alternate Name/ Synonym

CT: OI panel

Gene Name

  • ALPL
  • BMP1
  • COL1A1
  • COL1A2
  • CRTAP
  • FKBP10
  • IFITM5
  • LRP5
  • MBTPS2
  • P3H1
  • PLS3
  • PLOD2
  • PPIB
  • SERPINF1
  • SERPINH1
  • SP7
  • SPARC
  • TMEM38B
  • WNT1
  • XYLT2

Alternate Gene Name

HOPS, TNSALP, PCOLC, OI4, OI4, CASP, LEPREL3, hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833, hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833, fragilis4, Hrmp1, BRIL, GROS1, P3H1, LEPRECAN, MGC117314, LH2, CYPB, OI9, PEDF, EPC-1, PIG35, CBP1, CBP2, SERPINH2, HSP47, colligen, osterix, OSX, C9orf87, FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B, INT1, LRP7, OPPG, EVR1, LEPRE1

Test Code

CT-Panel 2

Division

Molecular Genetics

Method

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

CAP

Turn Around Time

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

Disease/Condition

Osteogenesis Imperfecta

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)

Storage/Transportation

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.  

Interpretation

Provided with report