MECP2 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

MECP2
  • Confirmation of clinical diagnosis
  • Differentiation between de novo and familial cases
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

549
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81302x1, 81304x1
No
Yes
  • 315.3 Developmental speech or language disorder
  • 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. Zeev et al. J Child Neurol 17:20-24, 2002
  2. del Gaudio et al. Gene Med 8:784-792, 2006
  3. Van Esch H. et al. Am J Hum Genet 77,:442-453, 2005
  4. Neul et al. Neurology 70:1313-1321, 2008
  5. Bebbington et al. Neurology 70:868-875, 2008
  6. Debona et al. Eur J Hum Genet 8:325-330, 2000
  7. Hitchins et al. Am J Med Genet A 125:167-172, 2004
  8. Couvert et al. Hum Mol Genet 10:941-946, 2001
  9. Kleefstra et al. Eur J Hum Genet 12:24-28, 2004
  10. Abdul-Rahman et al. Genet Med 8:50-54, 2006
  11. Carney et al. Pediatr Neurol 28:205-211, 2003
  12. Villard. J Med Genet 44:417-423, 2007, Bunyan et al. Genet Test 12:373-376, 2008