Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

FMR1 CGG Repeat Analysis



Clinical Utility:
  • To differentiate fragile X syndrome from other causes of intellectual disability and autism spectrum disorders
  • Preconception/prenatal carrier testing for women with a personal or family history of fragile X syndrome, unexplained intellectual disability, autism spectrum disorders, or POI
  • Carrier testing for at-risk relatives
Lab Method:
PCR Fragment Analysis


Test Code:
Turnaround Time:
2 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
81243x1, 81244x1
New York Approved:
ABN Required:
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 315.9: Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
  • 256.39: Other ovarian failure Delayed menarche Ovarian hypofunction Primary ovarian failure NOS
  • 759.83: Fragile X syndrome
  • 781.3: Lack of coordination Ataxia NOS Muscular incoordination Excludes: ataxic gait (781.2) cerebellar ataxia (334.0-334.9) difficulty in walking (719.7) vertigo NOS (780.4)
  • 299: Autistic disorder [0-1], Childhood autism, Infantile psychosis, Kanner's syndrome
  • 319: Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email


  1. McConkie-Rosell et al., (2005) J Genet Couns 14:249-270.
  2. Sherman et al., (2005) Genet Med 7:584-587.
  3. Pirozzi et al., (2011) Am J Med Genet A 155:1803-1816.
  4. Jacquemont et al., (2004) JAMA 291:460-469.
  5. Berry-Kravis et al., (2007) Movement Disord 14:2018-2030.
  6. Willemsen et al., (2011) Clin Genet [EPub ahead of print 2011 June 8].
  7. ACOG Committee Opinion Number 469 (2010) Obstet Gynecol 116:1008-1010.
  8. Hunter et al., (2009) Genet Med 11:79-89.
  9. Fernandez-Carvajal et al., (2009) J Molec Diag 11:306-210.
  10. Spector and Kronquist (2006) Technical Standards and Guidelines for Fragile X Testing: Supplement to Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Online: Accessed July 2011.
  11. Crawford et al., (2001) Genet Med 3:359-371.
  12. Jacquemont et al., (2011) Eur J Hum Genet 19:doi:10.1038/ejhg.2011.55

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