Molecular Pathology Laboratory

Laboratory overview

The Molecular Pathology Laboratory, based at King’s College Hospital is part of the South East Genomics Laboratory Hub and provides specialist genetic testing services for a wide range of inherited haematological conditions. The laboratory works closely with the National Screening Program for Sickle Cell and Thalassaemia, delivering prenatal diagnosis for haemoglobinopathies, new born screening for sickle cell for transfused infants, and genetic confirmation of antenatal screening results. This service is supported by close collaboration with the Red Cell Protein Laboratory and other referral laboratories.

Clinical support is provided by the laboratory’s Clinical Lead haematologist Professor David Rees, and Clinical Geneticist Dr Katie Snape, with regular multidisciplinary team (MDT) meetings held to discuss cases and service delivery. Referrers wishing to present a case for MDT discussion are encouraged to contact the laboratory using the details provided below.

The laboratory operates Monday to Friday, 9am to 5.30pm. The service is a UKAS accredited medical laboratory (No. 9092) to ISO15189:2022. The full accreditation schedule is available on the UKAS website: 9092 Medical Single.

Tests available

The majority of tests offered are aligned to the NHSE Genomics Test Directory (NHS England » National genomic test directory)

Haematology

• R361 Sickle cell, thalassaemia and other haemoglobinopathies carrier testing
• R93 Sickle cell, thalassaemia and other haemoglobinopathies
• R372 Newborn screening for sickle cell disease in a transfused baby
• R95 Iron overload – hereditary haemochromatosis
• R96 Iron metabolism disorders – NOT common HFE variants
• R92 Rare anaemia
• R91 Cytopenia – NOT Fanconi anaemia
• R313 Neutropenia consistent with ELANE variants
• R347 Inherited predisposition to acute myeloid leukaemia (AML)
• R366 Inherited predisposition to acute lymphoblastoid leukaemia (ALL)
• R405 Hereditary erythrocytosis
• R406 Thrombocythaemia
• Thrombophilia genotyping (Factor V Leiden and Prothrombin)
• MTHFR C677T genotyping

Gastrohepatology

• R168 Non-acute porphyrias
• R169 Acute intermittent porphyria
• R170 Variegate porphyria
• R176 Gilbert syndrome

Metabolic

• R323 Sitosterolaemia

Respiratory

• R191 Alpha-1-antitrypsin deficiency

Multi-purpose tests:

• R240 Diagnostic testing for known variant(s)
• R242 Predictive testing for known familial variant(s)
• R244 Carrier testing for known familial variant(s)

A copy of the laboratory referral form is available on the GLH website: 11.-Molecular-Pathology-Test-Request-Form-Jan-2025-editable-1.pdf