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ICD-10 Coding for Fragile X Syndrome(Q99.2)

Complete ICD-10-CM coding and documentation guide for Fragile X Syndrome. Includes clinical validation requirements, documentation requirements, and coding pitfalls.

Also known as:

FXSMartin-Bell Syndrome

Related ICD-10 Code Ranges

Complete code families applicable to Fragile X Syndrome

Q99.2Primary Range

Fragile X chromosome/Fragile X syndrome

Primary code for confirmed Fragile X syndrome diagnosis.

Intellectual disabilities

Used for intellectual disability associated with Fragile X syndrome.

Autism spectrum disorder

Used for comorbid autism spectrum disorder in Fragile X syndrome.

Key Information: ICD-10 code for Fragile X syndrome

Essential facts and insights about Fragile X Syndrome

The ICD-10 code for Fragile X syndrome is Q99.2, applicable when genetic testing confirms the diagnosis.

Primary ICD-10-CM Code for fragile xanthosine syndrome

Fragile X chromosome/Fragile X syndrome
Billable Code

Decision Criteria

clinical Criteria

  • Presence of >200 CGG repeats in FMR1 gene with methylation

documentation Criteria

  • Detailed genetic testing results and clinical features

Applicable To

  • Fragile X syndrome

Excludes

  • Other chromosomal abnormalities

Clinical Validation Requirements

  • CGG repeat expansion in FMR1 gene confirmed by PCR/Southern blot
  • Clinical features such as macroorchidism, elongated face, and ASD

Code-Specific Risks

  • Using Q99.2 without genetic confirmation
  • Misclassifying premutation carriers

Coding Notes

  • Ensure genetic testing results are documented to support the use of Q99.2.

Ancillary Codes

Additional codes that should be used in conjunction with the main diagnosis codes when applicable.

Intellectual disabilities

F70-F79
Used to specify the level of intellectual disability in Fragile X syndrome.

Autism spectrum disorder

F84.0
Used for comorbid autism spectrum disorder in Fragile X syndrome.

Differential Codes

Alternative codes to consider when ruling out similar conditions to the primary diagnosis.

Other specified chromosomal abnormalities

Q99.8
Used when Fragile X testing is negative but other chromosomal abnormalities are suspected.

Documentation & Coding Risks

Avoid these common documentation and coding issues when documenting Fragile X Syndrome to ensure proper reimbursement, maintain compliance, and reduce audit risk. These guidelines are particularly important when using ICD-10 code Q99.2.

Impact

Clinical: Misdiagnosis or delayed diagnosis of Fragile X syndrome., Regulatory: Non-compliance with documentation standards., Financial: Potential for denied claims.

Mitigation Strategy

Ensure detailed genetic testing results are included.

Impact

Reimbursement: Incorrect coding can lead to reduced reimbursement., Compliance: Non-compliance with coding guidelines., Data Quality: Inaccurate data on the prevalence of Fragile X syndrome.

Mitigation Strategy

Use Q99.2 when Fragile X syndrome is confirmed by genetic testing.

Impact

Lack of detailed genetic testing results in records.

Mitigation Strategy

Implement a checklist for genetic testing documentation.

Documentation errors, coding pitfalls, and audit risks are interconnected aspects of medical coding and billing. Addressing all three areas helps ensure accurate coding, optimal reimbursement, and regulatory compliance.

Frequently Asked Questions

Common questions about ICD-10 coding for Fragile X Syndrome, with expert answers to help guide accurate code selection and documentation.

Documentation Templates for Fragile X Syndrome

Use these documentation templates to ensure complete and accurate documentation for Fragile X Syndrome. These templates include all required elements for proper coding and billing.

Pediatric Evaluation

Specialty: Pediatrics

Required Elements

  • Genetic testing results
  • Clinical features
  • Family history

Example Documentation

Patient diagnosed with Fragile X syndrome confirmed by 320 CGG repeats in FMR1 gene. Clinical features include intellectual disability and macroorchidism.

Examples: Poor vs. Good Documentation

Poor Documentation Example
Patient has developmental delay.
Good Documentation Example
Patient diagnosed with Fragile X syndrome confirmed by genetic testing showing 320 CGG repeats in FMR1 gene.
Explanation
The good example provides specific genetic confirmation and clinical details.

Need help with ICD-10 coding for Fragile X Syndrome? Ask your questions below.

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