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Connective Tissue Disease: Osteopetrosis and disorders of increased bone density Panel
CT: Osteopetrosis
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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
Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel by exon targeted microarray.
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
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
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 Instructions for Genome Diagnostics Samples
Please ship us the blood sample within 48 hours of collection.
Osteopetrosis and disorders of increased bone density
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