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Laboratory Opening Hours Service Manager Mike Tinsley the Laboratory Is Staffed Monday - Friday, 8.00Am – 6.00Pm Excluding Bank IT Manager and Data Analyst Holidays

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Laboratory Opening Hours Service Manager Mike Tinsley the Laboratory Is Staffed Monday - Friday, 8.00Am – 6.00Pm Excluding Bank IT Manager and Data Analyst Holidays Version 6 The North East Thames Regional Genetics Service is based at Great Ormond Street Hospital. Cytogenetics Service Comprised of the Molecular and Cytogenetics laboratories along with Clinical Genetics we Level 5, York House, serve a population of approximately 5 million across North East London and Essex. 37 Queen Square London. WC1N 3BH. The service has a staff of approximately 80 including consultant clinical geneticists, state T +44 (0) 20 7829 8870 registered clinical scientists, genetic technologists and administrative support staff. The staff F +44 (0) 20 7813 8578 work closely with clinical colleagues and other healthcare scientists in pathology as well as with research staff at the Institute for Child Health. Jonathan Waters PhD FRCPath The laboratories provide an extensive range of diagnostic testing services and have Head of Service full CPA (UK) accreditation. The laboratory was inspected for UKAS accreditation Deborah Morrogh, under standard ISO15189 in May 2013, and is still waiting for a formal accreditation DipRCPath status response from UKAS. The service is a member of the South East of England Deputy Head Genetics Network (SEEGEN) and the United Kingdom Genetics Testing Network (UKGTN). Molecular The laboratory service processes over 26,500 samples per year and issues Genetics Service approximately 18,500 analytical reports. The service repertoire is regularly updated, but includes a regional service for postnatal and prenatal microarray, karyotyping Level 6, York House and a number of single gene disorders. Patients with developmental delay and/or 37 Queen Square dysmorphism, or patients with an anomalous ultrasound scan during pregnancy are London WC1N 3BH offered a 750K microarray analysis. Karyotyping is performed for a smaller number T +44 (0) 20 7762 6888 of patients, whilst samples from pregnancy losses are analysed using molecular F +44 (0) 20 7813 8578 methods. www.labs.gosh.nhs.uk The Unit receives nationally commissioned funding for a number of specialised Lucy Jenkins FRCPath services including Bardet-Biedl syndrome, craniosynostoses, lysosomal storage Head of Service disorders and severe combined immunodeficiencies. Sam Loughlin DipRCPath The laboratory also provides both a national and international service for non- Deputy Head invasive prenatal diagnosis, deafness, familial hypercholesterolaemia, surfactant deficiency, craniofacial, metabolic and primary immune deficiency disorders. Clinical Genetics Referrals are received for diagnostic, predictive, carrier and prenatal testing. Great Ormond Street Hospital, We undertake externally funded research projects and accept private referrals. Level 4, York House, Please contact the laboratory for further information. 37 Queen Square, London. WC1N 3BH. Research and development is a key objective of the Unit, a number of staff having joint T +44 (0) 20 7762 6856 academic appointments with University College London. The service has a strong F +44 (0) 20 7813 8141 commitment to education and training and public and patient engagement and participates in clinician, scientist and technologist training programmes. A number of staff are also actively Dr Jane Hurst involved at a regional and national level in policy development, training and examination. Lead Clinician The laboratory provides a DNA banking service and can forward samples to other centres for Other contacts approved requests provided funding is available. A complete list of in-house services and corresponding information sheets can be found in this service pack. Further details regarding Nick Lench PhD FRCPath tests which may be available from other laboratories can be found on pages 3 and 4. Director Jonathan Northfield Laboratory Opening Hours Service Manager Mike Tinsley The laboratory is staffed Monday - Friday, 8.00am – 6.00pm excluding bank IT Manager and Data Analyst holidays. Sample reception is open from 8.30am to 5.30pm. Specimens arriving outside these hours are refrigerated / frozen prior to processing. There is no out-of-hours service. Please send samples to the address shown in the right hand panel. Version 6 Sample Requirements Cytogenetics Service Level 5, York House, For sample requirements, please refer to our request card which can be found at: 37 Queen Square London. WC1N 3BH. http://www.labs.gosh.nhs.uk/laboratory-services/genetics/sending-a-sample T +44 (0) 20 7829 8870 It is the responsibility of the patient’s clinician to ensure that all requests meet F +44 (0) 20 7813 8578 testing criteria, that samples are correctly labelled and request forms are completed to a minimum standard. Jonathan Waters PhD FRCPath In submitting samples the clinician confirms that consent for testing and possible Head of Service storage has been obtained. Deborah Morrogh, Samples DipRCPath Deputy Head 5 ml venous blood in plastic EDTA bottles (>1 ml from neonates) For DNA samples, it is requested that the referral laboratory provides sufficient Molecular DNA for the analysis being requested. Genetics Service Samples must be labelled with: Level 6, York House 37 Queen Square • Patient’s full name (surname/family name and first/given name) London WC1N 3BH • Date of birth and unique hospital/NHS number T +44 (0) 20 7762 6888 F +44 (0) 20 7813 8578 • It is also desirable to have the date and time sample was taken and/or location www.labs.gosh.nhs.uk Prenatal Samples Lucy Jenkins FRCPath Head of Service Please contact the laboratory in advance of arranging a prenatal sample. Sam Loughlin DipRCPath Cytogenetic analysis of prenatal samples is routinely available. The type of test Deputy Head offered is dependent on criteria such as the patient having a serum screen risk only, or having abnormalities detected on ultrasound scan or individual service level Clinical Genetics agreements. Great Ormond Street Hospital, Prenatal diagnosis for molecular genetic disorders can only be offered by prior Level 4, York House, arrangement where diagnosis has been confirmed by molecular means and 37 Queen Square, parental samples are fully informative. It is standard practice for the laboratory to London. WC1N 3BH. exclude maternal cell contamination of all fetal samples; a maternal blood sample is T +44 (0) 20 7762 6856 required for this analysis. F +44 (0) 20 7813 8141 CVS / Amniocentesis: Tissue type and date of biopsy should be clearly Dr Jane Hurst documented on the referral information. In the case of twins, special attention must Lead Clinician be given to the identity of each sample. Other contacts Cell Free Fetal DNA Analysis: 20ml of maternal blood in EDTA is required. Sample date & gestation as confirmed by ultrasound scan must be provided along with a Nick Lench valid clinical indication for early gender determination or single gene testing. This PhD FRCPath Director test does not apply to twin pregnancies. Jonathan Northfield Please see pages 34 - 37 for further details. Service Manager Minimum sample labelling criteria: Mike Tinsley IT Manager and Data Analyst • Patient’s full name and date of birth • Unique hospital/NHS number Request form The Regional Genetics Laboratory has its own referral card; an electronic version is available on our website. Version 6 Alternative referral cards / letters are acceptable; it is preferable that any referral Cytogenetics Service card is fully completed. However, referral documents must provide the minimum Level 5, York House, criteria of: 37 Queen Square • Patient’s full name and date of birth London. WC1N 3BH. • NHS number (essential) and hospital number T +44 (0) 20 7829 8870 F +44 (0) 20 7813 8578 • Full name and address of referring clinician/consultant • Patient’s postcode Jonathan Waters PhD FRCPath • Patient’s GP name and address Head of Service • Clearly mark if referral is for a non-NHS patient Deborah Morrogh, • Analysis can only be carried out if a specific disease / gene test(s) is requested DipRCPath Deputy Head • For family / targeted mutation tests, a mutation report or GOS genetics family ID is required along with the relationship of your patient to family members Molecular previously tested. Genetics Service Sending samples Level 6, York House Samples sent by Royal Mail or courier must comply with PI 650 for category B 37 Queen Square substances. London WC1N 3BH +44 (0) 20 7762 6888 • This is a triple layer system which comprises a primary leak-proof receptacle T within a secondary leak-proof receptacle contained in a rigid outer package. F +44 (0) 20 7813 8578 The packaging should be strong enough to withstand a 95 kPA pressure www.labs.gosh.nhs.uk differential and a drop of 1.2 m. Lucy Jenkins FRCPath • There should be sufficient absorbent material between the primary and Head of Service secondary packaging to absorb any spillage. The primary container and Sam Loughlin DipRCPath absorbent material must be placed into a single bag with the request form Deputy Head in the pouch. • The package should be clearly labelled ‘diagnostic specimen UN3373’. Clinical Genetics Great Ormond Street Hospital, Pricing Level 4, York House, 37 Queen Square, London. WC1N 3BH. NHS Provider to Provider and Private / Overseas test prices T +44 (0) 20 7762 6856 Please contact the laboratory for an up-to-date price list. Prices are also available F +44 (0) 20 7813 8141 on our UKGTN listing. Dr Jane Hurst http://ukgtn.nhs.uk/find-a-test/search-by-laboratory/laboratory/london-north-east-rgc-gosh-43/ Lead Clinician Tests carried out by other laboratories Other contacts Nick Lench PhD FRCPath UK Genetic Testing Network www.ukgtn.nhs.uk Director The United Kingdom
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