Highly Specialised Services

Genomic Laboratory Hub Services

The expertise of the North East and Yorkshire region is reflected in the delivery of a number of national Highly Specialised Services. The GLH will continue to provide diagnostic services for rare tests associated with those clinical services.

Highly Specialised Services

Mitochondrial diseases are a group of highly complex genetic disorders that give rise to a wide spectrum of clinical symptoms, involving any organ or tissue, at any age, and with any mode of inheritance.

They are typically characterised by multi-system involvement, frequently affecting organs heavily dependent on aerobic metabolism such as heart, brain and muscle. They are relentlessly progressive with a high burden of complex clinical care needs, extensive morbidity and excess mortality and are notoriously difficult to diagnose.

In view of the complexity and the difficulty managing rare mitochondrial disease, the NHS Highly Specialised Service was established in 2007 in coordination with clinical and laboratory colleagues at UCLH, London and Oxford.

The Newcastle Mitochondrial Service is co-located within the Wellcome Centre for Mitochondrial Research, whose mission is to transform the lives of patients with mitochondrial disease. The Centre has a coordinated programme of clinical and basic science research themes, aimed at understanding fundamental mitochondrial biology and molecular mechanisms, disease progression and developing therapies, translating these scientific discoveries into improved patient care through initiatives such as mitochondrial donation for which Newcastle leads with the world’s first licenced treatment.

Rare Mitochondrial Disorders Service
Wellcome Centre Mitochondrial Research
Newcastle Fertility Centre

Sheffield Children’s Hospital hosts a world-class Metabolic Bone Disease Service.

This sees children from all over the UK with a wide range of conditions including: recurrent fractures, osteoporosis, osteogenesis imperfecta, osteopetrosis, rickets, hypophosphatasia, disorders affecting calcium and phosphate homeostasis and fibrous dysplasia/McCune Albright syndrome.

Sheffield Children’s Hospital delivers the Highly Specialised Service for Atypcial Osteogenesis Imperfecta (OI) and the HSS diagnostic Ehlers Danlos Syndrome service.

Sheffield Childrens Hospital Ehlers-Danlos Syndrome
Sheffield Childrens Hospital Metabolic Bone Disease
Ehlers-Danlos Syndrome National Diagnostic Service

The Highly Specialised Service (HSS) for Rare Neuromuscular Diseases offers national diagnostic and advisory service for the limb girdle muscular dystrophies (LGMD) and allelic disorders (e.g. myofibrillar myopathies)

Strong links with the clinical trial co-ordinators at the John Walton Muscular Dystrophy Research Centre, to facilitate rapid patient access to clinical trials.

John Walton Muscular Dystrophy Research Centre

The National Renal Complement Therapeutic Centre specialises in Atypical Haemolytic Uraemic Syndrome (aHUS), Eculizumab, C3 Glomerulopathy (C3G) and MPGN.

Approximately 50% of patients with aHUS have an underlying complement abnormality. Eculizumab is a complement inhibitor that was recommended by NICE in the treatment of aHUS in England.

Eculizumab is currently funded by NHS England through the national aHUS service based within the National Renal Complement Therapeutics Service at the Newcastle upon Tyne Hospitals NHS Foundation Trust.

At the NRCTC genetic testing and results are completely integrated to provide personalised management through the NRCTC MDT. This team consists of Adult Nephrologists, Paediatric Nephrologists, Consultant Geneticists, Consultant Immunologists, Clinical Scientists in genetics, haematology, immunology and biochemistry as well as internationally renowned complement scientists. Due to the high cost of Eculizumab (~£350,000/patient/year) and the potential side effects (x1000 fold increase in meningococcal sepsis) a fully integrated care pathway with genetics at its core is essential to expedite optimal personalised patient care.

One of the remits of the NRCTC is to provide high quality advice to patients about aHUS and C3G. The NRCTC has developed a website providing both lay and professional information and advice.

National Renal Complement Therapeutic Centre

If you require access to testing through any one of the specialised services please continue to follow local process and refer to your local GLH service.

“The partnership between Sheffield Teaching Hospitals, Leeds Hospitals, Sheffield Children’s Hospital and Newcastle Hospitals in the form of the new Genomic laboratory is another important step forward for our local population in terms of access to specialist genetic testing and interpretation.”

Dr David Throssell, Medical Director
Sheffield Teaching Hospitals
NHS Foundation Trust

Genomic Multi-Disciplinary Team Meetings

In order to support the interpretation of genomic data and its integration within the clinical Multi-Disciplinary Team process a series of genomic advisory boards have been established.

These are multi-disciplinary teams who analyse the more complex genomic results which arise from testing for larger numbers of gene abnormalities.

GMT Meetings

National Genomic Test Directory

The 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer.

View Directory
Genomic Laboratory Hub Services