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Paediatric Laboratory Medicine

Connective Tissue Disease: Osteopetrosis and disorders of increased bone density panel

Background

See related pages for information sheets on Conective Tissue Diseases: Osteopetrosis

Clinical Significance

See related pages for information sheets on Conective Tissue Diseases: Osteopetosis

Test Name

Connective Tissue Disease: Osteopetrosis and disorders of increased bone density panel

Alternate Name/ Synonym

CT: Osteopetrosis

Gene Name

  • CA2
  • CLCN7
  • LRP5
  • OSTM1
  • PLEKHM1
  • SNX10
  • TCIRG1
  • TNFRSF11A
  • TNFRSF11B
  • TNFSF11

Alternate Gene Name

Car2, CA-II, CAII, CLC-7, OPTA2, CLC7, ClC-7, PPP1R63, LRP7, OPPG, EVR1, LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4, HSPC019, GL, KIAA0356, TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3, PDB2, LOH18CR1, RANK, CD265, FEO, TRANCE, RANKL, OPGL, ODF, CD254, OPG, OCIF, TR1

Test Code

CT-Panel 3

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

Osteopetrosis and disorders of increased bone density

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