Understanding the role of genetic testing

While diagnosis of Rett syndrome is rooted in clinical evaluation, genetic testing may serve as a useful tool1,2

Consensus guidance for Rett syndrome (RTT) recommends gene sequencing and MLPA testing to detect deletions and abnormalities in MECP2.3

The potential benefits of this may include:

  • Insights into the appropriate course of action, which may help improve the care and management of individuals with RTT4
  • Starting management of RTT sooner3
  • Gaining enrollment in clinical trials3
  • Possible insurance eligibility for certain allied health services

MLPA=multiplex-ligation dependent probe amplification.

Resources for genetic confirmation

To confirm a clinical diagnosis of RTT, you can order diagnostic testing of the MECP2 gene through a number of providers:

Invitae (Behind the Seizure, or BTS, Program)

GeneDX

“Before her official diagnosis of Rett syndrome, all our daughter’s therapies were 100% out of pocket.”

– Caregiver and mother to 15-year-old with RTT

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References:

1. Neul JL, Fang P, Barrish J, et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008;70(16):1313-1321. 2. Neul JL, Kaufmann WE, Glaze DG, et al for the RettSearch Consortium. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68(6):944-950. 3. Fu C, Armstrong D, Marsh E, et al. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr Open. 2020;4(1):e000717. 4. Fu C, Armstrong D, Marsh E, et al. Multisystem comorbidities in classic Rett syndrome: a scoping review. BMJ Paediatr Open. 2020;4:e000731.