Fragile X Syndrome

Fragile X testing

18 days. In some cases, additional time may be required for confirmatory or reflex tests.

Polymerase chain reaction (PCR) followed by capillary electrophoresis for detection of CGG repeats, with reflex to AGG interruption analysis for CGG repeat sizes of 55-90 and methylation PCR analysis for CGG repeat sizes >149

Storage Instructions:
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

Causes for Rejection:
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container

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This test is used for diagnostic testing and carrier screening for fragile X syndrome.

Whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Yellow-top (ACD-A), lavender-top (EDTA), pink-top (EDTA) or tan-top (EDTA) tubes, or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

Do not eat, drink, smoke or chew gum 30 minutes prior to collection.

Standard phlebotomy. Follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions.