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FMR1 Gene (Fragile X Syndrome), PCR

Accredited Facility E-report Qualified Specialists

This test evaluates the FMR1 gene for CGG repeat expansion mutations. It helps diagnose Fragile X syndrome and identify carriers at risk of transmitting the condition.

  • If intellectual disability or developmental delay is present.
  • During autism spectrum disorder evaluation.
  • When Fragile X syndrome is suspected clinically.
  • In individuals with a family history of genetic disorders.
  • As part of preconception or genetic counseling screening.
  • No fasting is required.
  • A blood sample will be collected from a vein.
  • Genetic counseling is recommended before and after testing.
  • Family history information may assist interpretation.
  • Follow all laboratory instructions before sample collection.
  • FMR1 Gene (Fragile X Syndrome), PCR
    No labs currently offering this test.