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FMR1 CGG Repeat Analysis

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
FMR1
Disorders:
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:

ORDERING

Test Code:
522
Turnaround Time:
2 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81243x1, 81244x1
New York Approved:
No
ABN Required:
Yes
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 zebras@genedx.com

REFERENCES

  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: http://www.acmg.net/Pages/ACMG_Activities/stds-2002/stdsmenu-n.htm 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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