Connective Tissue Disease: Osteogenesis Imperfecta Panel
CT: OI panel
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
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)
For details about specimen requirements, please refer to: Specimen Type and Requirements
If sample shipment >48 hours, ship on ice.
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