ACCURATE TEST. FAST RESULTS.

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

LABORATORY TEST DIRECTORY

Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal

CPT Code(s): 81404 x2 (FGFR2, FGFR3); 81405 (FGFR1); 81408 x2 (COL1A1, COL1A2); 81479 x2; 81265 Fetal Cell Contamination
Specimen Required: Patient Preparation:
Collect:Fetal Specimen: Four (4) T-25 flasks at 80 percent confluent of cultured amniocytes or cultured CVS. If the client is unable to culture, this can be arranged by contacting RDL Client Services at (888) 431-7474. AND Maternal Cell Contamination Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Specimen Preparation:Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport four (4) T-25 flasks at 80 percent confluent of cultured cells filled with culture media. Backup cultures must be retained at the client's institution until testing is complete.AND Maternal Cell Contamination Specimen: Transport 3 mL whole blood (Min: 1 mL)
Storage/Transport Temperature:Culture Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells. Maternal Cell Contamination Specimen: Room temperature.
Stability:Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable Maternal: 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 dysplasiaCOL1A1COL1A2COL2A1COMPCRTAPDiastrophic dysplasiaDLL3DYNC2H1EBPEVCEVC2FGFR1FGFR2FGFR3FKBP10FLNAFLNBGNPATHSPG2IFT80LBRLEPRE1LIFRNEK1OsteochondrodysplasiaOsteogenesis imperfectaPEX7PORPPIBRUNX2SCL35D1SERPINH1SLC26A2SOX9Thanatophoric dysplasiaTRIP11TRPV4TTC21BWDR19WDR35