Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

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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