Rett syndrome. Sequencing of the MECP2 gene by Sanger [1 gene]

Rett syndrome is a rare genetic disease that causes problems in development and the nervous system, mostly in girls. It is related to autism spectrum disorder. At first, babies with Rett syndrome appear to grow and develop normally. However, between three months and three years old, they stop their development and may even lose some skills. Symptoms include:

  • Loss of speech
  • Loss of hand movements, such as grasping things
  • Compulsive movements such as hand-wringing
  • Balance problems
  • Respiratory problems
  • Behavioral problems
  • Learning problems or intellectual disabilities

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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Rett syndrome. Sequencing of the MECP2 gene by Sanger

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Technique: Sanger

Turnaround time (TAT): 25 days

Ref. S-202009939

Rett syndrome. Sequencing of the MECP2 gene by Sanger: View panel
  • MECP2

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.