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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Fra(X) syndrome
  • FRAXA syndrome
  • FXS
  • Marker X syndrome
  • Martin-Bell syndrome
More Names
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Tests & Diagnosis


Newline Maker

Is genetic testing available for fragile X syndrome?

Yes, genetic testing is available for fragile X syndrome. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the diagnosis of an FMR1-related disorder (including fragile X syndrome) has been confirmed in a family member.[1] GeneTests lists the names of laboratories that are performing genetic testing for fragile X syndrome. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, those interested in learning more may need to work with a health care provider or a genetics professional.
Last updated: 6/15/2011

References
  1. Robert A Saul, Jack C Tarleton. FMR1-Related Disorders. GeneReviews. October 28, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1384/. Accessed 6/16/2011.


Testing

  • The American College of Medical Genetics (ACMG) Laboratory Quality Assurance (Lab QA) Committee has the mission of maintaining high technical standards for the performance and interpretation of genetic tests.  In part, this is accomplished by the publication of the document "ACMG Standards and Guidelines for Clinical Genetics Laboratories." These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. To view the Technical Standards and Guidelines for Fragile X syndrome, visit the link above.
  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.