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Laboratory Test Directory

Fragile X Diagnosis

Components

Name Method Department Units
Fragile X Diagnosis Polymerase chain reaction (PCR)
Southern Blot
Capillary electrophoresis
Send Out Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

6 mL 5 mL
Alternate

Yellow tube (ACD)

8 mL 5 mL
Stability

Refrigerated - 1 week(s)
Room temperature - 4 day(s)

Specimen Preparation

  • Transport to laboratory as soon as possible
  • Mix EDTA tube by gentle inversion immediately after collection
  • Do not freeze
  • Do not centrifuge

Reasons for Rejection

  • Wrong collection tube
  • Centrifuged specimen
  • Delayed or improper handling
  • Frozen specimen
  • Clotted specimen

Comments

This test analyzes the number of CGG trinucleotide repeats in the FMR1 gene.

CPT Code

  • 81243
  • 81244