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CDKL5 Gene Sequencing

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:
Capillary Sequencing

ORDERING

Test Code:
3051
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 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
  • 45.6: Infantile spasms
* For price inquiries please email zebras@genedx.com

REFERENCES

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

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