Monogenic Diabetes

  • Scheme code
  • Target
    Mutations in the GCK, HNF1A, HNF1B and HNF4A genes.
  • Sample material

    DNA (in TE Buffer).

  • Scheme format

    Assessment of genotyping, and biological and clinical interpretation.
    For each case, participants are expected to return a clinical report which includes a complete interpretation of the results.
    No restrictions on number of participants.
    Open to laboratories from ALL countries.
    Three mock clinical cases with matching samples.

  • Reporting Language

    Reports accepted in English, German and French ONLY.

  • Additional information

    Suitable for sequence based analysis (e.g. NGS / Sanger Sequencing) and copy number analysis (e.g. MLPA, NGS based CNV analysis).
    Also known as Maturity onset diabetes of the young (MODY).

  • Performance criteria
    Performance Criteria DO Apply
  • Accreditation
    This scheme IS covered by the scope of EMQN's accreditation
  • Collaborator
    There are no collaborators
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