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Fragile X Syndrome

Considerations for Ordering Fragile X Syndrome DNA Testing

See Delay? Don’t Delay!

Who?

Children with developmental delays, intellectual disability, behavior problems, a diagnosis of autism spectrum disorder

What Is Needed?

  • Consider ordering FMR1 DNA testing for Fragile X syndrome - usually covered by insurance, including Medicaid
  • Discuss a referral to a geneticist

When?

At the office visit when the delays are identified

Why?

  • Fragile X syndrome is the most common inherited cause of intellectual disability and the most common known inherited cause of autism spectrum disorder
  • Early diagnosis will help maximize the child’s potential
  • Early diagnosis is the key to early and appropriate management, support services and resources
  • Early diagnosis benefits the family by helping them to better understand the disorder, how it affects the child’s development and behavior, and allows assessment of reproductive risks
  • Many families have a second child with Fragile X syndrome before receiving a diagnosis

How?

  • ICD-10 codes
  • Fragile X syndrome: Q99.2
  • Developmental delay/delayed milestone: R62.0/R62.50
  • Intellectual disability: F79 and other codes F01-F99
  • Autism: F84.0

Resources:

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