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Cytogenetics

At Liverpool Women’s, we operate laboratories dedicated to cytogenetics - the specific branch of genetics that studies chromosomes. The study of cytogenetics has a number of applications in modern medicine and over the years we have amassed expertise in this field, which is why today we provide a specialist cytogenetics service to trusts and health professionals in our region and across the UK.

  • The role of cytogenetics

    There are many instances where our team of specialists undertakes cytogenetic studies at Liverpool Women’s. One of the most well known uses of cytogenetics is for the prenatal diagnosis of chromosomal abnormalities, such as Down’s Syndrome, where the presence of an extra chromosome 21 (trisomy 21) is associated with a range of abnormal features such as hypotonia, protruding tongue, single palmer crease, heart defects and intellectual and developmental delay.

    Techniques such as amniocentesis and chorionic villus sampling are cultured and analysed to detect a variety of chromosomal abnormalities. It is also an essential tool for investigating children with delayed development or of an abnormal appearance and provides much-needed medical insight for couples with reproductive difficulties such as infertility or recurrent miscarriages.

    Recurrent miscarriages can be caused by chromosomal abnormalities which may not affect the appearance or health of the person carrying them but may result in miscarriage or the birth of an abnormal child. One type of chromosome abnormality, which may have this effect, is a reciprocal translocation where two chromosomes break and swap segments.

    Cytogenetics is also recognised by haematologists as critical to the study of leukaemia, where malignant cells often develop chromosomal abnormalities, a number of which are specific for particular types of leukaemia. Cytogenetics can therefore be useful in the diagnosis, the assessment of prognosis, and the monitoring of treatment in leukaemia.

  • Services available
  • Suitable sample types
  • Comprehensive and quality service

    The comprehensive service that we provide is part of a fully integrated service that includes Cytogenetics, Molecular Genetics and Clinical Genetics when appropriate. The laboratory is unconditionally accredited by CPA (UK) Ltd and participates in all appropriate National External Quality Assurance Schemes.

    In addition to the specific services we provide, the user will benefit from the following services:

    • Audit of data as required
    • Supply of special data for specific surveys etc
    • Onward transfer of patient cells or tissue to other laboratories within the UK and international where appropriate*
    • Professional advice in clinical cytogenetic matters as required
    • Provision of copy reports, letters etc to relevant consultants from referrals of patients made to the Fetal Centre at Liverpool Women’s
    • Genetic education visits to the laboratory and presentations at the relevant hospital site

    *Cells derived from skin biopsies and other tissues will be sent, at the request of the referring clinician to the appropriate centre for investigation. Please note: the referring centre will be responsible for any costs incurred by the tests.

  • Workload measurement and monitoring

    All work carried out by the cytogenetics team is measured by Workload Units as defined by the Association for Clinical Genetic Science. Activity data will be provided to users on a quarterly basis, 10 days after the quarter end. The activity data will include requesting consultant, name of test, number of WLU, lab number, hospital number and NHS number.

    The laboratory is accredited by CPA UK Ltd- the national accreditation body for Medical Laboratories in the UK. External monitoring of the service is by entry into the appropriate National External Quality Assurance Schemes (CEQAS).

  • User responsibilities

    Delivery of our cytogenetics service is dependent on the co-operation of the user. The user is responsible for:

    • Obtaining appropriate consent from the patient for the required test and making the patient aware that microscope slides will be stored for up to five years. Where requested, cells derived from cultured tissue will be stored in a Liquid Nitrogen cell bank. The patient should be aware that DNA extracted from their sample will be stored for quality assurance purposes.
    • Despatching samples in a timely manner to arrive on a weekday within normal working hours of between 9am and 5.30pm.
    • Ensuring that all samples are accompanied by a cytogenetic studies request form or covering letter with full details including which specific tests are required.
    • Informing us about cases that require specific urgent attention.
    • Booking patients for prenatal diagnosis tests in with us at least two days in advance.

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