Microdeletion Syndromes

Service Description

This test uses either Multiplex Ligation-dependent Probe Amplification (MLPA) or Fluorescence In Situ Hybridization (FISH) to checks for a group of genetic disorders caused by the deletion of a small piece of DNA from a chromosome. These deletions can vary in size and location, and can affect the function of one or more genes in the affected region. Microdeletion Syndromes in this test include: 1. DiGeorge syndrome: caused by a deletion of a region of chromosome 22, which can result in a wide range of symptoms, including heart defects, cleft palate, immune system abnormalities, and developmental delays. 2. Williams syndrome: caused by a deletion of a region of chromosome 7, which can cause a unique facial appearance, heart defects, developmental delays, and a friendly personality. 3. Prader-Willi syndrome: caused by a deletion of a region of chromosome 15, which can cause a range of symptoms, including intellectual disability, obesity, and a characteristic set of physical features. 4. Angelman syndrome: also caused by a deletion of a region of chromosome 15, which can cause intellectual disability, seizures, and difficulty with movement and balance. 5. Cri-du-chat syndrome: caused by a deletion of a region of chromosome 5, which can cause a distinctive high-pitched cry in infants, as well as intellectual disability and developmental delays. Sample: BLOOD Results: 2 WEEKS Phlebotomy fee: Included in price Code: E|L-G24-2WKS

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Contact Details

• 305 Neasden Lane, London NW10 1QR, UK

  02071268511

  info@ejbio.co.uk