Haematology
Haematology testing
The Molecular Haemostasis & Thrombosis laboratory
The Molecular Haemostasis & Thrombosis laboratory was established in 1994 and developed in to a National and International referral centre with one of the largest repertoires of genes involved in disorders of coagulation. Once part of the Centre of Haemostasis & Thrombosis at St. Thomas’ Hospital, it maintains strong ties with this Clinical Centre of excellence. The laboratory has been CPA / UKAS accredited* continuously since 1994. It now forms part of the SE GLH providing, alongside the Molecular Pathology laboratory at King’s College Hospital (see below sections), haematology genetics for SE England as one of four national providers.
As well as providing a comprehensive diagnostic service, the Molecular Haemostasis lab has a strong record of presenting at national and international meetings and producing publications.
Red Cell Centre
The King’s College Hospital based Red Cell Centre (RCC) is a national reference centre for clinical and laboratory services for patients with a range of red cell disorders, providing a comprehensive and integrated approach to the diagnosis, management and treatment of a variety of disorders . The Centre looks after a large number of patients with Sickle Cell disease. Care pathways have been established for both paediatric and adult patients. This includes specialist wards for inpatient management and day wards for transfusion and assessment of both adults and children with red cell abnormalities.
Synnovis Analytics form the core laboratory component of the RCC and comprise of a designated national centre for neonatal screening of sickle cell diseases, antenatal screening and diagnosis and prenatal molecular diagnosis of haemoglobinopathies. The laboratories are divided into two, one focusing on phenotype and screening the other definitive molecular diagnosis. The two laboratories work closely together to offer a comprehensive service aiming to achieve a diagnosis for cases of unexplained anaemia.
- Definitive diagnosis and prenatal diagnosis for haemoglobinopathies.
- Haemoglobin variant identification, in partnership with the Red Cell Centre.
- Investigation into thalassaemia, in partnership with the Red Cell Centre.
- Investigation into raised HbF and secondary modifiers of sickle cell disease, such as Gilberts syndrome
- Genotyping for alpha-1 antitrypsin deficiency in partnership with Biochemistry.
- Genotyping for thrombophilia in partnership with Haematology.
- Full gene sequencing for Acute Intermittent Porphyria and Variegate Porphyria, in partnership with Biochemistry.
- Genetic investigation into iron overload including hereditary haemochromatosis.
Red Cell Centre – Molecular Pathology Laboratory at King’s College Hospital
The Synnovis Molecular Pathology Laboratory at King’s College Hospital provides molecular genetic testing as part of the King’s Red Cell Centre (RCC). The RCC is a national reference centre for clinical and laboratory services for patients with a wide range of red cell disorders, providing an integrated approach to the diagnosis, management and treatment of a variety of conditions. Working closely with the red cell protein laboratory and other pathology disciplines, the laboratory has a long history of incorporating phenotype and genotype information to issue comprehensive, interpretative molecular genetic reports.
Since its inception, the Molecular Pathology Laboratory has built a large repertoire of tests for inherited haematological diseases and allied conditions. The service now includes prenatal, antenatal, adult and new-born screening haemoglobinopathy testing alongside genotyping assays for Gilbert’s syndrome, heamochromatosis, alpha-1-antitrypsin and thrombophilia.
In 2016 the next generation sequencing red cell gene panel was introduced as one of the first comprehensive gene panels for diagnosing rare inherited anaemia in the UK. The panel quickly expanded further to include other inherited haematological disorders including inherited bone marrow failure and cytopenias, porphyria, disorders of iron regulation and congenital erythrocytosis.
The service offers prenatal diagnosis of haemoglobinopathies alongside the national antenatal screening program. Providing haemoglobinopathy prenatal testing for London and the South East of England makes the Molecular Pathology Laboratory one of the busiest centres in Europe. Prenatal diagnosis is also available on findings from the rare inherited anaemia panel in partnership with the clinical excellence of the RCC.
- Largest prenatal diagnosis laboratory for haemoglobinopathies in Europe. >95% of PND samples are completed within the 3 day TAT irrespective of fetal risk.
- Genetic screening for sickle cell disease in bloodspots from transfused babies. Part of the Newborn Screening Programme.
- Understanding the genetic inheritance of HbF.
- Developed a Next Generation Sequencing method for mapping large structural variations causing thalassaemia.
For accredited tests refer to the UKAS website here UKAS: Search Accredited Organisations.
Tests offered & request forms to use
The Molecular Haemostasis & Thrombosis laboratory
From the National Genomic Test Directory repertoire: R90, R97, R112, R115, R116, R117, R118, R119, R120, R121, R122, R123, R124, R240.
For other non-Test Directory analyses available – see the Synnovis website.
Please ensure that the following are included:
- Patient demographics including full name, date of birth and Hospital or NHS number
- Referring clinician details – including return address/email for report.
Red Cell Centre
From the National Genomic Test Directory repertoire: R96, R94, R93, R93, R92, R92, R92, R91, R366, R362, R361, R361, R347, R323, R313, R229, R191, R176, R170, R169, R16.
For other non-Test Directory analyses available – see the Synnovis website.
Please ensure that the following are included:
- Patient demographics including full name, date of birth and Hospital or NHS number, referring laboratory sample number
- Referring clinician details – including return address/email for report
- Requests must include a copy of recent FBC including reticulocytes if relevant to investigation
- Copy of Haemoglobinopathy report and/or chromatogram if sickle cell and thalassaemia investigation required
- Include other laboratory results relevant to investigation.
Turnaround times
Compliant with NHSE turnaround times:
Single gene analysis 42 days
Panel analysis 84 days
Known/familial variant 14 days
Prenatal diagnosis 3 days
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.
Sample requirements
Blood samples should preferably be EDTA although citrated samples are acceptable. Heparinised tubes and clotted samples are not acceptable.
- EDTA whole blood (min. vol. 1mL) – preferred
- Buccal swab – can be provided by laboratory
- Fetal material for PND – CVS, Amnio.
- Solid tissue for DNA extraction e.g. post mortem material (discuss with lab first)
Samples must be labelled with a minimum of two identifiers including full name, date of birth, NHS or Hospital number.
Samples will be rejected if conflicting data recorded on sample and form and any inappropriate samples are sent e.g. heparinised.
Samples must be securely packaged and not damaged or leaking.
Lab addresses and opening hours
Molecular Haemostasis & Thrombosis
4th Floor North Wing
St. Thomas’ Hospital
London SE1 7EH
08:00 – 17:15 Mon-Fri (Main Central Specimen Reception open for sample receipt 24/7 365 days)
Molecular Pathology
Reference Haematology
c/o Central specimen reception
Blood Sciences Laboratories
Ground floor Bessemer wing
King’s College Hospital
London SE5 9RS
09:00 – 17:30 Mon-Fri (Main Central Specimen Reception open for sample receipt 24/7 365 days)
For clinical advice
Centre for Haemostasis & Thrombosis (1st Floor, North Wing, St. Thomas’ Hospital)
Adults: 0207 188 2781 / Paediatric: 0207 188 4704
Emergency/Out of hours 0207 188 7188 – ask for the Consultant Haematologist on call
Kings College Hospital Clinical team
Professor David Rees – 0203 299 3239 / david.rees2@nhs.net
Dr Subarna Chakrovarty – 0203 299 4089 / subarna.chakravorty@nhs.net
Key contacts
The Molecular Haemostasis & Thrombosis laboratory
Dr Michael Mitchell, Consultant Clinical Scientist
Jacqueline Cutler, Operations Manager
Professor Beverley Hunt, Clinical Lead
0207 188 6817 / 0207 188 2798
viapath.mol.haem@nhs.net
Red Cell Centre
Frances Smith, Head of Molecular Pathology
Nick Parkin, Deputy Head of Molecular Pathology
Professor David Rees, Clinical Lead
0203 299 2265
kch-tr.pnd@nhs.net
