Rett Syndrome Comprehensive Panel (MECP2, FOXG1, CDKL5)

 
Classic Rett syndrome is an X-linked condition known to be associated with a mutation in the MECP2 gene. This is a progressive neurodevelopmental disorder that primarily affects girls. There is usually normal development during the first 6 to 18 months of life followed by a short period of stagnation. Then there is regression in language and motor skills with additional features of stereotypic hand movements, lack of purposeful use of the hands, teeth grinding, periodic breathing, seizures and acquired microcephaly.
 
Atypical Rett syndrome is similar to classic Rett syndrome; however, patients tend to have either milder or more severe findings compared to classic Rett syndrome. Atypical Rett syndrome is associated with mutations in either FOXG1 or CDKL5 genes. Specifically, mutations in the CDKL5 gene can be associated with severe and early-onset seizure activity. A small percentage of male patients have also been described with atypical Rett syndrome.
 
Genetics Center’s Comprehensive Rett Syndrome Panel includes the following genes:

  • MECP2
  • FOXG1
  • CDKL5

 
Rett syndrome testing is also available on a single gene basis.
 
REASONS FOR TESTING

  • Confirmation of a clinical diagnosis.

 
GENETICS CENTER RETT SYNDROME TESTING METHODS

  • Sequence analysis of coding regions and splice sites of MECP2, FOXG1, and CDKL5 genes.

 
TURN AROUND TIME

  • 7 days

 
SPECIMEN REQUIREMENTS AND SHIPPING/HANDLING

  • Buccal swab: optimal sample is 2 swabs
  • Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top)
  • Shipping: Store blood or Buccal swab at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.

 

Send to:

Genetics Center
211 S. Main Street
Suite AA
Orange, CA 92868
Tel: (714) 288-3500

 
REQUIRED FORMS

 
CPT CODES

  • Please contact Genetics Center for further details.