CDKL5 Gene Sequencing

Forms and Documents

Test Details

CDKL5
  • 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
  • Capillary Sequencing

Ordering

3051
6-7 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes

Billing

81406x1
No
Yes
  • 315.3 Developmental speech or language disorder
  • 45.6 Infantile spasms
  • 318 Other specified mental retardation
  • 299 Pervasive developmental disorders
  • 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. 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