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LABORATORY TEST DIRECTORY

Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal

CPT Code(s): 81243; 81265; if reflexed add 81244
Specimen Required: Patient Preparation:
Collect:Fetal Specimen: Amniotic fluid or two T-25 flasks at 80 percent confluency of cultured amniocytes. If the client is unable to culture amniocytes, 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:Amniotic Fluid: Transport 10 mL unspun fluid. (Min: 5 mL)Cultured Amniocytes: Fill flasks with culture media. Transport four T-25 flasks at 80 percent confluency of cultured amniocytes. Backup cultures must be retained at the client's institution until testing is complete. Maternal Cell Contamination Specimen: Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature:
Stability:Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable Maternal Cell Contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: This test is New York DOH approved.
Aliases:
  • Cytogenetics, High Resolution & Fragile X DNA (Fragile X (FMR1) Diagnostic, Fetal)
  • High Resolution & Fragile X DNA (Fragile X (FMR1) Diagnostic, Fetal)
  • Inherited Mental Retardation (Fragile X (FMR1) Diagnostic, Fetal)
  • Martin-Bell Syndrome (Fragile X (FMR1) Diagnostic, Fetal)