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LABORATORY TEST DIRECTORY

Fragile X (FMR1) with Reflex to Methylation Analysis

CPT Code(s): 81243; if reflexed add 81244
Specimen Required: Patient Preparation:
Collect:Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Specimen Preparation:Transport 5 mL whole blood. (Min: 1.5 mL)
Storage/Transport Temperature:Room temperature. If transport time will exceed 48 hours: Refrigerated.
Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: This test is New York DOH approved.
Aliases:
  • Inherited Mental Retardation (Fragile X (FMR1) Diagnostic)
  • Martin-Bell Syndrome (Fragile X (FMR1) Diagnostic)