In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and will resume our normal work schedule on Saturday, November 29, 2014. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
FMR1 CGG Repeat Analysis
FORMS AND DOCUMENTS
- 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:
- 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
- McConkie-Rosell et al., (2005) J Genet Couns 14:249-270.
- Sherman et al., (2005) Genet Med 7:584-587.
- Pirozzi et al., (2011) Am J Med Genet A 155:1803-1816.
- Jacquemont et al., (2004) JAMA 291:460-469.
- Berry-Kravis et al., (2007) Movement Disord 14:2018-2030.
- Willemsen et al., (2011) Clin Genet [EPub ahead of print 2011 June 8].
- ACOG Committee Opinion Number 469 (2010) Obstet Gynecol 116:1008-1010.
- Hunter et al., (2009) Genet Med 11:79-89.
- Fernandez-Carvajal et al., (2009) J Molec Diag 11:306-210.
- 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.
- Crawford et al., (2001) Genet Med 3:359-371.
- Jacquemont et al., (2011) Eur J Hum Genet 19:doi:10.1038/ejhg.2011.55