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Example clinical scenario

A woman presents for her fetal anomaly screening scan. The scan identified multiple cysts in the baby’s right kidney. The left kidney appeared normal with no anomalies seen.

When to consider genomic testing

  • Genomic testing should be considered in cases of cystic renal disease, especially when it is bilateral and/or associated with other anomalies, in order to estimate the chance of recurrence.
  • Prenatal testing and diagnosis can be offered in the first-trimester for families where there is a known genetic cause.

What do you need to do?

  • Consult the National Genomic Test Directory. From this directory you can access the rare and inherited disease eligibility criteria for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet 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.
  • Explore the woman’s pregnancy, medical and family history.
  • Refer to local guidance regarding fetal medicine referral (a further review in a fetal medicine unit is usually warranted).
  • The fetal medicine review will determine whether genomic testing is appropriate, and referral to clinical genetics will be considered. Referral to clinical genetics is not routinely indicated unless fetal exome sequencing is planned (see below).
  • The fetal medicine team will decide which testing is most suitable for the patient and/or discuss the case with a multidisciplinary team, depending on the specific clinical scenario and the patient’s wishes.
  • Depending on the clinical scenario, a range of different genomic tests may be considered:
  • For tests that are undertaken using whole genome sequencing (WGS), you will need to:
  • For tests that do not include WGS, you will need to:
    • complete a test order form and consent (record of discussion) form, available from your local Genomic Laboratory Hub (GLH).
    • include details of the phenotype in the test order form (refer to HPO terms or the clinical summary) as well as the appropriate panel name(s) with associated R number.
    • parental samples may be needed for interpretation of the proband’s result. Parental samples can be taken alongside that of the proband, and their DNA stored, or can be requested at a later date if needed.
  • For all these tests, an amniocentesis or chorionic villus sample or fetal blood sample (in an EDTA tube) is required.
  • For many of the tests (particularly whole genome and exome sequencing), parental samples are also needed or are helpful.
  • 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.


For clinicians


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  • Last reviewed: 03/03/2024
  • Next review due: 03/03/2025
  • Authors: Donna Kirwan
  • Reviewers: Dr Andrew Breeze, Dr Jessica Woods