Connective Tissue Disease: Bone Involvement Panel
Alternate Gene Names
CDPX, CDPX1, HIP4, COLL6, STL2, CO11A1, DFNA13, DFNB53, HKE5, SEDC, AOM, STL1, EDM2, MED, IDD, MED, EDM3, FLJ90759, DJ885L7.4.1, TYRO10, NTRKR3, TKT, CDPX2, CPX, CPXD, CHO2, FBN, MFS1, WMS, MASS, OCTD, SGS, CCA, DA9, ACH, CEK2, JTK4, CD333, FLN1L, LRS1, TAP, TABP, ABP-278, FH1, SJS1, perlecan, PRCAN, WDR10, WDR140, WDR10p, SPG, C14orf179, FLJ32173, MGC16028, WDR56, KIAA1374, DHCR14B, TDRD18, CD118, NY-REN-55, KIAA1901, XAP104, H105e3, SDR31E1, PTS2R, RD, PTHR, PTHR1, DTD, DTDST, UGTREL7, KIAA0260, FLJ25785, CMD1, CMPD1, SRA1, CEV14, Trip230, GMAP-210, OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C, FLJ11457, JBTS11, NPHP12, IFT139, Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13, MGC33196, KIAA1336, IFT121, IFTA1, PSACH, EDM1, EPD1, MED, THBS5, FLJ20071, DMC, SMC, PEK, PERK, EDM5, HOA, BAPX1, NKX3B, NKX3.2, PHOG, GCFX, SS, SHOXY, SEDL, TRS20, SEDT, MIP-2A, ZNF547L, hYP38334, SART2, DSEPI, PSACH, EDM1, EPD1, MED, THBS5, CRTM, CMP, EDM5, HOA
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).
- 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.
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.
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