Fragile X, PCR and southern blot analysis

Alphabetical Test listing

Fragile X, PCR and southern blot analysis-13566

Fragile X, PCR and southern blot analysis

Diagnostic testing for:

  • Unexplained intellectual disabilities, developmental delay or autism
  • Women with primary ovarian insufficiency or failure, premature menopause, or infertility associated with elevated FSH levels before the age of 40 with no known cause
  • Individuals with late onset intention tremor and/or cerebellar ataxia of unknown origin
EDTA whole blood
10 mL

Lavender (EDTA), 10mL

ACD whole blood

Yellow ACD (A or B)



Yellow ACD (A or B)


Molecular Medicare billing request

  • Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
  • All information requested is required in order for your request to be completed


  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis (QNS) 
  • Improper container
  • Unlabeled or mislabeled specimen
  • PCR testing cannot be added on to a sample that has been opened and/or used for other testing. If the sample has already been used for testing, a new specimen will need to be collected.
LabCorp RTP (511655): R-LC
PCR - Daily
Southern blot - 1x per week
8 - 12 days

Polymerase chain reaction (PCR) followed by capillary electrophoresis and Southern blot (SB) analysis.


An interpretive report will be provided


Fragile X syndrome is the leading cause of inherited intellectual disability, affecting approximately 1 in 4,000 males and 1 in 8,000 females. It is found in all ethnic groups, and can occur in families with no history of intellectual disability. Women may decide to have testing to find out if they are carriers, and therefore are at risk of having a child with Fragile X syndrome. The carrier frequency in women is approximately 1 in 260. Fragile X Test is commonly used for individuals at higher risk, including those that may be symptomatic or have a family history suggestive of Fragile X syndrome.

This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
Result 77202-0