Fragile X (FXS Gene Testing)

By: | Tags: | Comments: 0 | October 29th, 2019

Currently approved only for NJ

Fragile X is a triplet CGG repeat primed PCR assay followed by fragment size analysis by capillary electrophoresis (CE). Methylation analysis is used to distinguish between premutation and full mutation alleles. Methylation-specific PCR analysis is performed for CGG repeat lengths greater than or equal to 200 repeats.

Fragile X premutation carrier screening is recommended for women with a family history of Fragile X-related disorders or intellectual disability suggestive of fragile X syndrome and who are considering pregnancy or are currently pregnant. Preferred test to diagnose Fragile X syndrome and carrier screening in individuals with a positive family history.

Lincoln Labs Fragile X test offers:

  • Turnaround time of 7-10 days
  • Broad coverage by most private and public insurance.

Specimen Requirements

Transport 5 mL whole (Min: 2 mL whole blood)

Storage/Transport Temperature – Room temperature. If transport time will exceed 48 hours: Refrigerated.

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