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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:
84311x1, 88271x10, 88291x1
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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