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Test Code LAB738 FMR1 Chromosome Analysis, Fragile X DNA

Important Note

  • Testing Performed at The University of Iowa Diagnostic Laboratories (UIDL)
  • Laboratory personel: UPH Courier  to deliver to UIDL (preferred), address found on order form, or can be shipped FedEX

Additional Codes

SQ: FRAIOW

UIDL: FX 

Collection

Patient Preparation:

  • Standard blood collection procedure.

Specimen Type:

Minimum Volume:

  • Adult: 3mL whole blood
  • Children: 2mL whole blood

Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing.

Reasons for Rejection:

  • Specimen does not meet collection, storage, or transport requirements.

Stability

  • Ambient: 24 hours.
  • Refrigerated: 21 Days.
  • Frozen: 6 months.

Reference Range

  • Normal: ≤ to 44 CGG repeats
  • Indeterminate: 45-55 CGG repeats
  • Pre mutation (carrier): 56-199 CGG repeats
  • Full mutation (affected): ≥ to 200 CGG repeats

Method Name

Polymerase Chain Reaction (PCR) and Southern Blot

Performing Laboratory

University of Iowa Diagnostic Laboratory Iowa City, Iowa

Day(s) Performed

  • Weekly

Analytical Time:

  • 21 Days

CPT Codes

81243 (PCR only)
81244 (PCR & Southern Blot)