A genetic test (MLPA- Rett Syndrome (MECP2) Deletion/Duplication by Blood) that looks for changes (variants, deletions or repeat expansions) in the gene(s) responsible for Rett syndrome.
Confirms the diagnosis of Rett syndrome, helps in carrier testing and family screening, and allows prenatal diagnosis where needed.
Suspected inherited conditions, family history, or as advised by a specialist or genetic counsellor.
No fasting needed.
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Yes. Genetic counselling before and after testing helps you understand the results and what they mean for you and your family.
No fasting is needed. You can eat and drink normally unless your doctor has advised otherwise.
Blood sample (EDTA tube); some genetic tests also accept saliva, tissue or other samples.
Usually within 16–17 days after the sample reaches the lab. You will receive the report online.