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 zebras@genedx.com.

CDKL5 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CDKL5
Disorders:
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

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81405x1
New York Approved:
Yes
ABN Required:
Yes
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 zebras@genedx.com

REFERENCES

  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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