Our pathology services
For details of the examinations offered by the individual laboratories, including information concerning samples, special precautions and turnaround times, please refer to the relevant departmental handbook. Departmental Handbooks will also provide information to factors known to significantly affect the performance of the examination or interpretation of results. It is advised that you consult the handbooks prior to sending a sample.
Handbooks will also contain instructions for the preparation of the patient (where applicable) and instructions for samples collected by the patient.
Birmingham Women’s Hospital Clinical Chemistry (including Down’s, Edwards’ and Patau’s Screening Service)
The department provides general analytical service for Gynaecology, Obstetrics and Neonatal Unit services in the Trust. In addition, a haematinic service is provided for both the Women’s and Children’s Hospitals. The department has an SLA with the Chemistry department at the Children's Hospital for the provision of an out of hours service.
The department is also a regional and extra-regional centre for the National Antenatal (Down’s) Screening Programme and is the largest Down’s screening laboratory in the country, screening approximately 95,000 patients a year. The antenatal screening programme consists of first and second trimester and integrated screening to measure total hCG, AFP and UE3, free beta-hCG and PAPP-A.
Birmingham Women’s Hospital Haematology and Transfusion
The department offers routine diagnostic investigations across Haematology and Blood transfusion for the clinical services at the Women’s hospital site. Haematology tests include full blood counts, coagulation screens, screening for lupus anticoagulant, sickle cell and thalassemia screening and Anti-Xa assay for monitoring patients on low molecular weight Heparin. The department also provides trust wide Haematology clinic for patient referrals.
Blood bank services are required to provide a rapid response 24 hours per day to any surgical trauma or obstetric haemorrhage with regard to the provision of appropriate blood products. The tests provided include blood grouping, antibody screens and cross-matching.
Birmingham Women’s Hospital Cellular Pathology
The clinical histology service at BWH provides an analytical and interpretive service on a range of clinical specimens. The department provides a diagnostic gynaecological histopathology service for the Women’s Hospital and supports the activities of the Regional Gynaecological Cancer Centre based at City Hospital, Birmingham. The department also provides a tertiary referral service.
The department is a recognised Regional Perinatal Pathology Centre providing foetal and perinatal autopsy services to the whole of the West Midlands region. The department also offers limited post-mortems, including external examination with X-Ray and photographic documentation of salient features. Placental histopathology is also undertaken following a variety of pregnancy complications. In addition, post-mortems are undertaken for HM Coroners around the West Midlands and further afield.
Birmingham Women’s Hospital Andrology
The Andrology laboratory provides a diagnostic semen analysis service as a component of fertility investigation prior to fertility treatment. All semen analysis investigations are undertaken on site and no samples are referred to other hospitals.
Referral for semen infertility analysis is via the Patient Access Team (Booking Office) who will then issue appointments to the patient.
Birmingham Children’s Hospital Blood Sciences
The service scope for the Blood Sciences department at Birmingham Children’s Hospital is to provide routine and specialised diagnostic investigations across Haematology, Blood Transfusion and Clinical Chemistry. The department supports regional and supra-regional services in Paediatric medicine and surgery. Please refer to the Blood Science User Handbook for further information.
For a list of the tests accredited by UKAS, please visit the UKAS website.
Birmingham Children’s Hospital Histopathology
The histopathology department provides a comprehensive specialized paediatric pathology service. The service covers the whole spectrum of paediatric pathology, including a wide range of biopsy and surgical specimens, transplant biopsies (liver, small bowel, kidney), CNS and neuro-muscular biopsies, FNA and other cytology specimens (BAL, CSF), and autopsies. The Department is keen to undertake research with the medical staff, but plans for this should always be discussed in advance with the consultant Histopathologist.
For a list of the tests accredited by UKAS, please visit the UKAS website.
Newborn Screening and Biochemical Genetics
Our department includes two regional services: Newborn Bloodspot Screening which is commissioned by Public Health England and Metabolic Disorders (Laboratory Services) which is commissioned by NHS England.
The laboratory professionals are part of a wide multidisciplinary IMD team comprising of clinical, nursing, dietetic, pharmacy and psychology staff. The team includes specialised clinical scientists, biomedical scientists and clinical nurse specialists supported by medical laboratory assistants and clerical officers. We work closely with the relevant clinical teams who care for patients with a positive diagnosis. For newborn screening, this is endocrinology, haematology, respiratory and clinical inherited metabolic disorders teams. For biochemical genetics this is clinical inherited metabolic disorders, hepatology, neurology and renal medicine.
Consultant Biochemist, Clinical Lead and Director of Newborn Screening, Mary Anne Preece
0121 333 9940
Lead BMS, Russell Denmeade
0121 333 9938
Consultant Biochemist, Pippa Goddard
0121 333 9927
Location and facilities
The department is located in the Paediatric Laboratory Medicine Block at the Children’s Hospital, on the ground and first floor.
Newborn blood spot screening
The NHS newborn blood spot (NBS) screening programme aims to identify rare conditions that can lead to serious illness, development problems and even death.
The West Midlands screening laboratory is one of the largest screening laboratories in the UK, equipped with the latest analytical equipment helping to maintain technical excellence. The laboratory performs testing on blood spots taken from all babies born in the West Midlands region (approximately 75,000 every year). The laboratory works closely with Child Health and Public Health England to make sure every baby is screened.
All babies in England are currently screened for:
- Congenital hypothyroidism
- Sickle cell disease
- Cystic fibrosis
and six rare inherited metabolic disorders (IMDs):
- Phenylketonuria (including the investigation of biopterin defects)
- Medium chain acyl CoA dehydrogenase deficiency
- Maple syrup urine disease
- Pyridoxine non-responsive homocystinuria
- Glutaric aciduria type 1
- Isovaleric acidaemia.
All of these conditions are difficult to detect at birth without screening, and all benefit from starting treatment as soon as possible, before clinical symptoms are apparent.
Blood spot samples are collected from all babies on the fifth day of life. This is usually by a community midwife who visits the family at home. If the screening test is positive, it suggests that the baby may have one of the conditions. We make arrangements for the baby to be seen by specialist teams to confirm the result and commence treatment if appropriate. Our clinical nurse specialists will contact the family to provide this information.
All results are reported to Child Health, who then send a letter to the parents.
Babies can miss screening and blood spot samples can sometimes fail to reach screening laboratories or get delayed in transit. Babies affected by screened conditions can suffer serious harm by the time these failures get detected. In some cases they are not detected at all. The impact on lives of babies and parents, as well as costs of treatment and care is avoidable through the use of the newborn blood spot failsafe solution (NBSFS).
The NHS UK Newborn Blood Spot Screening Programme website contains further information for parents, midwives and other health professionals on rare diseases, sample collection, policies and guidelines.
0121 333 9905
Biochemical Genetics Laboratory
The Biochemical Genetics laboratories provide biochemical, enzyme and DNA testing with result interpretation for the diagnosis, monitoring and clinical care of patients with inherited metabolic disorders (IMD), which are rare serious conditions. We provide testing to patients with a wide range of IMDs: for the paediatric IMD service at the Children's Hospital, the adult IMD service at University Hospitals Birmingham, and for referrals from all hospitals across the West Midlands region and beyond. Testing includes a range of specialist biochemical tests, some of which are: organic acids, amino acids, acylcarnitines, mucopolysaccharides and lysosomal enzymes.
The service also provides a national, and in some cases international, enzyme service for: non-ketotic hyperglycinaemia and tyrosinaemia type I. In the molecular genetics laboratory, we provide testing to diagnose and assess the risk of patients and their families of inheriting a genetic condition. We currently are the only laboratory in the UK offering genetic testing for Menkes disease, non-ketotic hyperglycinaemia (NKH) and tyrosinaemia type 1.
We have facilities for tissue banking and the culture and storage of skin fibroblasts, transformed lymphoblasts, chorionic villus cells and amniotic fluid cells.
The Biochemical Genetics laboratories are members of the Metabolic Biochemistry Network (MetBioNet) and the UK Genetic Testing Network (UKGTN)
Metabolic (IMD) Laboratory
0121 333 9942
Molecular Genetics Laboratory
0121 333 9877
- Inherited metabolic disorders handbook[pdf] 891KB
- Add on request form [docx] 42KB
- Parent Information Leaflet Blood collection from Heels [pdf] 451KB
- Parent information leaflet Blood Collection from Fingers and Thumbs [pdf] 330KB
- West Midlands Newborn Screening Annual report 2016_2017 [pdf] 1MB
- Sudden Unexpected Deaths in Infants and Children Under 18 (SUDC) Multi-Agency Protocol [pdf] 2MB