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MECP2 Full Gene Sequencing

MECP2-related disorders in females include classic Rett syndrome and atypical Rett syndrome. These are both progressive neurodevelopmental disorders primarily affecting females, although some cases affecting males have been reported. Typically affected individuals have normal development up to the first 6 to 18 months of life, followed by developmental plateau, then rapid regression and loss of motor and language skills. Other associated features include acquired microcephaly, autistic-like features, stereotypic hand movements, autistic-like features, bruxism, gait apraxia, seizures. Atypical Rett syndrome may have either milder or more severe features compared to typical Rett syndrome.

Mutations in the MECP2 gene have been found to cause both Rett syndrome and atypical Rett syndrome. Males with mutations in this gene may have more severe features such as severe neonatal encephalopathy to a wide variety of neuropsychiatric features, cognitive impairment, spasticity and global developmental delay.

Reasons for Referral

  • Individuals with suspected Rett syndrome or atypical Rett syndrome.
  • Patients with autism spectrum disorders.
  • Male patients with progressive neurodevelopmental impairment.
  • Diagnostic clarification for individuals with acquired microcephaly, developmental delay and/or seizures.
  • Carrier testing for mothers of patients known to have a mutation in the MECP2 gene.
  • Prenatal diagnosis in at-risk pregnancies.

Testing Methods

Sequencing of 4 exons and intronic splice site regions in the MECP2 gene are evaluated for in this test.

Turn Around Time

7 days or fewer

Specimen Requirements and Shipping/Handling

Postnatal Samples:

Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top).

Buccal Swab: please contact the lab for a collection kit.

Prenatal Samples (please contact the lab before shipping):

Amniotic Fluid: 30 mL of clear amniotic fluid. The sample also needs to be accompanied by 1-5 mL of maternal blood in EDTA (lavender top) for maternal cell contamination studies.


Blood Postnatal Samples:

Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.

Amniotic Fluid Prenatal Samples:

Ship at ambient temperature in an insulated container via overnight delivery within 4 hours after collection.

Send Specimen(s) to:

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


CPT Codes

CPT’s: 81302, G0452

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