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What is Fragile X Syndrome?

Fragile X syndrome (FXS) is a genetic disorder caused by changes in the FMR1 gene located on the X chromosome.  It is the most prevalent inherited cause of mild-to-severe intellectual disability and the most common single-gene cause of autism spectrum disorder.¹ The FMR1 gene not only causes Fragile X syndrome but a spectrum of conditions called fragile X-related disorders such as Fragile X Tremor and Ataxia Syndrome (FXTAS) and Primary Ovary Insufficiency (POI) depending on the CGG repeat size and patient’s gender.

Who Should Test for Fragile X?

Fragile X testing should be considered under the following circumstances:

  • Individuals with unexplained intellectual disabilities or developmental delays, where the cause is unclear
  • Those with a family history of Fragile X syndrome or Fragile X related conditions 
  • When behavioral or learning difficulties are present, in combination with physical characteristics associated with Fragile X syndrome.
  • In females with fertility issues or trouble conceiving

Why Should I Test?

The identification of FXS within a family can offer valuable insight, into explaining a patient’s intellectual disabilities and behavioral challenges. This knowledge enables the family and caregivers to better understand the disorder, facilitating tailored care strategies aimed at maximizing the patient’s developmental potential.

How is Testing Performed?

Quadrant Laboratories offers a simple, saliva-based at home collection kit for Fragile X testing.  The Quadrant Laboratories Fragile X Repeat Assay uses the tri-primer PCR (polymerase chain reaction) and capillary electrophoresis (CE) technologies to detect the CGG repeat size(s) in the FMR1 gene.

This form of Fragile X testing detects more than 99% of individuals (both males and females) with FXS, as well as premutation carriers of the condition.

For more information on our Fragile X Test view our full brochure here: Fragile X Syndrome Brochure

Where to Order Testing?

Fragile X Testing can only be prescribed by a healthcare provider with a valid NPI number. 

There are two simple ways for healthcare providers to order:

  1. Submit a genetic test request via fax request through your EMR system to 315-666-1379.
  2. Complete the following forms and forward them to Quadrant Laboratories:

Test Requisition Form

Benefits Investigation Form

Letter of Medical Necessity

Send Completed Forms to:

Email: [email protected] 

Fax: (315) 666-1379

Once all forms are received and approved by Quadrant Laboratories an order will be placed, and a saliva collection kit will be sent to the location specified on the order form (ie: patient’s home or doctor’s office)

When Will I Get Results?

Results will be sent to the ordering provider 4-6 weeks after your saliva sample is received at our lab.