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

Alternate test name

CT: Osteopetrosis

Gene name / Alternate gene name
  • CA2
  • CLCN7
  • LRP5
  • OSTM1
  • SNX10
  • TCIRG1
  • TNFSF11

Alternate Gene Names

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

Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment

Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel 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

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.

For details about specimen requirements, please refer to: Specimen Type and Requirements

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

Osteopetrosis and disorders of increased bone density

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