New additions to the website

NIPT, JAK2, FMR1, Fragile X syndrome, BCR-ABL1 and MTHFR now on the site

  • NIPT (Non-Invasive Prenatal Testing) or cffDNA is used to evaluate the risks of Down syndrome or a rarer chromosomal disorder
  • JAK2 mutation or Janus Kinase 2 is used for the diagnosis of bone marrow disorders
  • FMR1 mutations are most commonly performed in children with symptoms of Fragile X syndrome
  • Fragile X syndrome is the most common known cause of inherited intellectual and developmental disability
  • BCR-ABL1 or Philadelphia Chromosome is used to diagnose and monitor chronic myeloid leukaemia (CML) and acute lymphoblastic leukaemia (ALL)
  • MTHFR mutation testing may be done in association with raised homocysteine levels


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