Cytogenetics Division
Chief Cytogeneticist: Dr David Betts
As highlighted on the home page, we have been forced to restrict the Cytogenetics services we offer. Until further notice, we will only be accepting peripheral blood samples from the following referrals:
- New-borns and infants (<1 yr old) for karyotype analysis
- Microdeletion syndromes for FISH-only analysis
- On-going family studies
Separate letters have been issued to specific service users concerning the effects on the oncology and products of conception service. Details of of oncology restrictions are listed in the PDF document Partial suspension of oncology cytogenetic services.
Analysis of pre-natal samples remains unaffected.
If you have any enquiries, please contact the Cytogenetics Laboratory.
The Cytogenetics Laboratory at the National Centre for Medical Genetics was established in January 1995 to provide a general cytogenetics service to the Irish population.
A wide variety of tests are offered on metaphase chromosomes derived from peripheral blood lymphocytes, bone marrow cells, skin and placental fibroblasts, and amniocytes.
The laboratory offers high resolution G band chromosome analyses and a comprehensive molecular cytogenetics service involving fluorescence in situ hybridization (FISH) for microdeletion syndromes (Prader-Willi/Angelman, Miller-Dieker, Williams, DiGeorge, Smith Magenis, Cri-du-Chat, Wolf Hirschhorn, Kallman and Retinoblastoma).
A large number of other FISH probes, including oncology probes, are available upon request. The Laboratory operates in close collaboration with the Clinical Genetics Unit and the Molecular Genetics laboratory at the National Centre.
Services offered
The Cytogenetic Lab offers analyses on:
- Blood (2ml in lithium heparin is required).
- Skin (in sterile transport media).
- Bone marrow and peripheral blood for oncology studies (0.5 - 1ml in transport medium with heparin).
- Amniotic Fluid (10 ml of amniotic fluid is required).
- Chorionic villi (please contact lab before taking sample).
Samples for constitutional cytogenetic analysis should not be refrigerated however, samples for oncology cytogenetics MUST be refrigerated if they cannot be delivered on the day of aspiration. All samples must be accompanied by a referral form and packaged according to UN guidelines.
If your patient has recently been transfused or has ever had a bone marrow transplant, please read the “Transfusions and Transplants information sheet”.
The Cytogenetics Laboratory is is currently oversubscribed. Any new referring institution should contact the Cytogenetics laboratory prior to sending a sample for analysis.
Reporting Times
| Sample Type | Average report time (days) | Median report time (days) | % within guidelines1 |
|---|---|---|---|
| Amniotic Fliud (AF) | 14.9 | 14 | 56% within 14 days |
| Chorionic Villus Sample (CVS) | 14.8 | 14 | 51% within 14 days |
| Urgent Peripheral Blood (infants <6weeks old) | 8.5 | 8 | 42% within 7 days |
| Other Peripheral Blood | 100.6 | 64 | 31% within 28 days |
| Solid Tissue | 24.1 | 28 | 56.5% within 28 days |
| Diagnostic leukaemia (ALL, AML, CML) | 10.4 | 8 | 91.4% within 14 days2 |
| Routine bone marrow | 33.7 | 17 | 54.4% within 21 days |
| Haematology disease related Peripheral Blood | 11.6 | 7 | N/A |
Basis: Samples reported in the period 01/09/2009 - 30/11/2009
1 Guidelines used represent ACC, ECA or treatment protocols
2 85% of cases outside 14 days due to late notification of diagnosis
New sample ID policy
As part of a continuing process of quality improvement, the NCMG is formalizing its sample identification policy, to ensure that all samples accepted for testing are identifiable to a unique individual. A summary of the policy is available in PDF format. Please note that from October 2nd, 2006 samples not complying with this policy will not be accepted for testing.
Any questions you may have about the policy may be addressed to the Chief Cytogeneticist, Dr David Betts.
Quality Assurance
The laboratory participates in the UK NEQAS quality assessment scheme in clinical cytogenetics.