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In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

Rett syndrome

Rett syndrome is a progressive, neuro-developmental disorder that affects approximately 1 in 10,000 females. Classic Rett syndrome is diagnosed based on a defined set of clinical criteria and characterized by apparently normal development in the first 6-18 months, followed by an arrest in development and subsequent regression in language and motor skills. Frequent symptoms include […]

Rett syndrome is a progressive, neuro-developmental disorder that affects approximately 1 in 10,000 females. Classic Rett syndrome is diagnosed based on a defined set of clinical criteria and characterized by apparently normal development in the first 6-18 months, followed by an arrest in development and subsequent regression in language and motor skills. Frequent symptoms include loss of speech and purposeful hand use, stereotypic hand movements, ataxia, microcephaly, and seizures. “Atypical” Rett syndrome can be milder or more severe than typical Rett syndrome and is diagnosed when some but not all clinical criteria for Rett syndrome are present. The milder form may include mental retardation, mild learning disablilities and/or autism. Mutations in the MECP2 gene have been found to cause Rett syndrome and “atypical” Rett syndrome in females. In males, MECP2 mutations are not as common and responsible for a broad spectrum of neurodevelopmental phenotypes, ranging from severe neonatal encephalopathy to a variety of neuropsychiatric features or mild mental retardation. Rarely, males with a progressive neurodevelopmental syndrome, including mental retardation, spasticity, speech and social problems, have been found to have a duplication or triplication of the MECP2 gene.

CDKL5 mutations have been associated with X-linked mental retardation and a broad spectrum of neurological symptoms that show broad overlap with atypical Rett syndrome and Angelman syndrome. The majority of patients are females. Most patients have a severe phenotype with early-onset encephalopathy and infantile spasms, global developmental delay and mental retardation, although cases with much milder symptoms have been reported.

Tests Available

STAT Epilepsy Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ALDH7A1, ARX, CDKL5, FOLR1, KCNQ2, KCNQ3, MECP2, MEF2C, PCDH19, PNPO, POLG, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SPTAN1, STXBP1
Clinical Utility:
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
Lab Method:
Exon Array CGH, Next-gen Sequencing

ORDERING

Test Code:
814
Turnaround Time:
2 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81405x2, 81406x3, 81407x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Ottman et al., (2010) Epilepsia 51:655-670.
  2. Pong et al., (2011) Pediatr Neurol 44:317-327.
  3. Nicita et al., (2011) Seizure: Eur J Epilepsy doi:10.1016/j.seizure.2011.08.007
  4. Zucca et al., (2008) Arch Neurol 65:489-494.
  5. Harkin et al., (2007) Brain 130:843-852.
  6. Higurashi et al., (2011) Epilepsy Res dio:10.1016/j.eplepsyres.2011.10.014.
  7. Depienne et al., (2009) Plos Genet 5(2):e1000381.
  8. Marini et al., (2010) Neurology 75:646-653.
  9. Hynes et al., (2010) J Med Genet 47:211-216.
  10. Depienne et al., (2010) Hum Mutat 32:E1959-E1975.
  11. Weckhuysen et al., (2012) Ann Neurol 71:15-25.
  12. Carvill et al., (2014) Neurol 82:1245-1253.
  13. Mills et al., (2010) Brain 133:2148-2159.
  14. Nguyen et al., (2006) J Hepatol 45:108-116.
  15. Isohanni et al., (2011) Neurol 76:811-815.
  16. Hunter et al., (2011) Pediatr Neurol 45:311-318.
  17. Kamiya et al., (2004) J Neurosci 24(11):2690-2698.
  18. Ogiwara et al., (2009) Clin Genet 73(13):1046-1053.
  19. Veeramah et al., (2012) Am J Hum Genet 90:502-510.
  20. Saitsu et al., (2010) Am J Hum Genet 886:881-891.
  21. Gospe et al., (2010) Chang Gung Med 33:1-12.
  22. Li et al., (2006) J Hum Genet 52:38-47.
  23. Tao et al., (2004) Am J Hum Genet 75:1149-1154.
  24. Rosas-Vargas et al., (2008) J Med Genet 45:172-178.
  25. Zweier et al., (2010) Hum Mutat 31:722-733.
  26. Grapp et al., (2012) Brain 135:2022-2031.

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