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We perform medical diagnostic tests and efficiently provide accurate results that help your physician screen for, diagnose, and manage the treatment of health problems.

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Skeletal Dysplasia Panel, Sequencing, 39 Genes

CPT Code(s): 81404 x2 (FGFR2, FGFR3); 81405 (FGFR1); 81408 x2 (COL1A1, COL1A2); 81479
Specimen Required: Patient Preparation:
Collect:Lavender (EDTA) or yellow (ACD Solution A or B).
Specimen Preparation:Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature:Refrigerated.
Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Aliases:
  • Achondrogenesis type IB and IIAchondroplasiaAGPSALPLARSECampomelic dysplasiaCOL1A1COL2A1COMPCRTAPDiastrophic dysplasiaDLL3DYNC2H1EBPEVCEVC2FGFR1FGFR2FGFR3FKBP10FLNAFLNBGNPATHSPG2IFT80LBRLEPRE1LIFRNEK1OsteochondrodysplasiaOsteogenesis imperfectaPEX7PORPPIBRUNX2SCL35D1SERPINH1SLC26A2SOX9Thanatophoric dysplasiaTRIP11TRPV4TTC21BWDR19WDR35
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