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Example clinical scenario

A five-year-old girl is referred to your clinic for assessment of precocious puberty. On further examination, you notice multiple café-au-lait macules and one larger hyperpigmented area, running from the upper left arm to the neck and chest and stopping at the midline, which has an irregular, jagged border.

When to consider genomic testing

  • Genomic testing should be considered if the patient presents with:
    • multiple café-au-lait macules: These usually appear on one side of the body and have a jagged, irregular ‘coast of Maine’ border;
    • polyostotic fibrous dysplasia: These usually appear on one side of the body, typically in weight-bearing bones (such as legs) and can cause pain, abnormal bone growth and fractures; and
    • endocrine dysfunction: The most common feature of endocrine dysfunction is precocious puberty, especially in girls (often presenting as vaginal bleeding).
  • Radiological and endocrinological investigations may initially be indicated if the condition is suspected.

What do you need to do?

  • Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria, which provides information about individual tests and their associated eligibility criteria. You can also access a spreadsheet containing details of all available tests.
  • To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
  • Decide which of the panels best suits the needs of your patient or family. For suspicion of McCune-Albright syndrome:
    • R327 Mosaic skin disorders – deep sequencing: This investigates a dermatological anomalies likely to have a mosaic single-gene cause. An appropriate sample type of affected tissue should be considered.
    • If testing blood, an EDTA sample (purple-topped tube) is required for DNA testing. However, given that McCune-Albright syndrome is a mosaic condition, genomic diagnosis is most reliable from affected tissue (for example, through skin biopsy of an affected area). You may wish to discuss this with your local clinical genetics and/or dermatology team.
  • Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

For clinicians

References:

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  • Last reviewed: 31/03/2024
  • Next review due: 31/03/2025
  • Authors: Dr Lianne Gompertz
  • Reviewers: Dr Ellie Hay, Dr Emile Hendriks