Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at

CDKL5 Del/Dup



Clinical Utility:
  • Confirmation of clinical diagnosis
  • Differentiation of CDKL5-related atypical Rett syndrome from classic Rett syndrome (in patients who tested negative for a MECP2 mutation)
  • Differentiation between de novo and familial cases
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH


Test Code:
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 45.6: Infantile spasms
  • 299: Autistic disorder [0-1], Childhood autism, Infantile psychosis, Kanner's syndrome
  • 318: Other specified mental retardation
  • 315.3: Developmental speech or language disorder
  • 299: Pervasive developmental disorders
  • 315.9: Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email


  1. Evans JC et al., Eur J Hum Genet. 2005;13(10):1113-20
  2. Van Esch H et al., Am J Med Genet A. 2007;143(4):364-9
  3. Kalscheuer VM et al., Am J Hum Genet. 2003;72(6):1401-11
  4. Mari F et al., Hum Mol Genet. 2005;14(14):1935-46
  5. Rosas-Vargas H et al., J Med Genet 2008; 45: 172-178
  6. Weaving LS et al., Am J Hum Genet 2004; 75:1079-1093
  7. 1Tao J et al., Am. J. Hum. Genet. 75: 1149-1154, 2004
  8. Archer HL et al., J Med Genet 2006; 43:729-734

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