NICU/PICU
Urgent tests for patients on NICU/PICU
Tests offered
Guided by NHS England some tests are offered through Whole Genome Sequencing (WGS) and require separate forms and some by non-WGS which can use standard forms.
The Rapid Genome Sequencing Service for acutely unwell children with a likely monogenic disorder (R14), is tested via WGS and is a national service delivered by the South West GLH at the Exeter Laboratory. If you are interested in requesting this for your patient please contact your local Clinical Genetics team in the first instance. If both they, and subsequently the team in Exeter, approve your referral please complete the form and email to the testing laboratory BEFORE sending any samples. Ensure that the email addresses are provided for the responsible clinician and Clinical Geneticist. CONSENT: receipt of samples for testing assumes that informed consent has been obtained for all family members being tested and the possibility of incidental findings has been discussed. More information on the service and relevant forms can be found on the Exeter laboratory website.
Other tests are commonly ordered by non-WGS and these are:
- QF-PCR rapid aneuploidy detection for chromosomes 13, 18, 21. Testing for sex chromosomes if clinically indicated. Targeted G-banded karyotype follow-up of abnormal PCR results. More information about QF-PCR testing can be found on the Synnovis website. Commonly requested indications include:
- R26 Likely common aneuploidy
- R314 Ambiguous genitalia presenting neonatally.
- Array analysis if clinically indicated (more information about the array analysis available can be found on the Synnovis website). Commonly requested indications include:
- R137 congenital heart disease – microarray
- R27 Congenital malformation and dysmorphism syndromes (likely monogenic cause) – microarray and sequencing
- R69 Hypotonic infant
- R146 Disorders of sex development
- R28 Congenital malformation and dysmorphism syndromes (likely chromosomal cause) – microarray only
- R263 Confirmation of uniparental disomy is available through the Core RD page. More information on this testing can be found on the Synnovis website.
Please refer to the NHSE National Genomic Test Directory for further indications available and information regarding clinical criteria.
Eligibility
Urgent testing is for neonates i.e. under a month old.
Any referrals from patients over a month old will be reported as routine with a 42 day turnaround time unless there is a clinical reason to expedite. Reasons to expedite the test should be included in the test request form.
Requirements
Sample types accepted: 1-5ml of blood in LiHep (required for QFPCR and cell culture and karyotype) and EDTA (required for DNA extraction and array testing).
Samples should ideally be received for processing within 3 days of being taken. Samples that are more than 5 days old at receipt may be sub-optimal for testing. In addition to sub-optimal samples, low volumes also affect the performance of the test.
If samples are unlabeled the referring clinician will be contacted to complete a disclaimer form for consent to process the sample.
Turnaround times
Rapid aneuploidy by QFPCR – 3 days
Urgent targeted G-banded karyotype (follow up of abnormal PCR) – 14 days
Urgent array analysis – 14 days
Key contacts
Service Delivery Manager – Keeley Monsen-McCann
Operations Lead – Emma Fowler
For any clinical or scientific queries please contact the laboratory on 020 7188 1713 between the hours of 9am to 5pm, Monday to Friday. Alternatively contact Emma Fowler on 020 7188 1712.
SE GLH: Non-WGS Genetic test request form
Please note that errors made when completing the form may result in delays in processing.
Please include accurate phenotype information to ensure correct and comprehensive testing is activated.
It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic testing.
SE GLH: Record of Discussion form
The Record of Discussion form can be downloaded and used to guide and record the patient’s consent. This should be saved in local patient records and does not need to be sent with the request form.
Lab address and opening hours
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Mon-Fri 9:00-17:00
Tel: 020 7188 2582
For complaints
For complaints, please visit the Synnovis complaints page for the policy and procedure.
The Synnovis Genetics laboratory at Guy’s Hospital is the hub laboratory of the SE GLH.
For accredited tests refer to the UKAS website here UKAS: Search Accredited Organisations – UKAS number 8688. The laboratory works closely with Clinical Services throughout Guy’s and St Thomas’ NHS Foundation Trust (GSTT) and St George’s Hospital Foundation Trust. With our partner laboratories, the SE GLH provides a comprehensive genetics service for a population of 8 million.
In addition, the laboratories receive a large number of national and international referrals for an increasing number of highly specialised genetic tests.
As well as providing a comprehensive diagnostic service, the Synnovis Genetics Laboratory has an active research and development programme. The laboratory works collaboratively with other groups such as GSTT Biomedical Research Centre and the GSTT Genetics Innovation Unit.