Epilepsy disorders

Genomics (GenQA)

Molecular testing for disorders associated with childhood-onset epilepsy (Rett syndrome, tuberous sclerosis and Dravet syndrome).

Erythropoietin

Clinical Chemistry (Birmingham Quality)

Assessment of analytical bias and its consistency across time

ESR

Haematology

To monitor the performance of ESR measurement

Exome Sequencing Data Interpretation

Genomics (GenQA)

Interpretation and classification of relevant genetic variants identified by trio exome analysis

Extended Red Cell Phenotyping (ERP)

Blood Transfusion Laboratory Practice

Eye disorders

Genomics (GenQA)

Molecular testing for retinopathies, structural eye disorders and albinism.

Factor II, V, VII VIII, IX, X, XI, XII Assays

Blood Coagulation

Faecal Haemoglobin

Clinical Chemistry (Birmingham Quality)

Assessment of analytical bias and its consistency across time

Faecal Markers

Clinical Chemistry (Birmingham Quality)

Assessment of analytical bias and its consistency across time

Faecal Pancreatic Elastase

Clinical Chemistry (Birmingham Quality)

Assessment of analytical bias and its consistency across time

Faecal parasitology

Parasitology

To assess a laboratory's ability to identify the faecal parasites present in the sample and differentiate such parasites using standardised methodologies.

Faecal pathogens

Microbiology

To provide a less frequent EQA sample to laboratories who are outside the UK and provide a minimal diagnostic service (community setting), or are in a resource poor country or are new to EQA/QM and wanting to try the process

Familial Colorectal Cancer and Polyposis

Genomics (GenQA)

Molecular testing for Lynch syndrome, Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (FAP).

Familial Endocrine tumour predisposition disorders

Genomics (GenQA)

Molecular testing for MEN1, MEN2, VHL and FMTC disorders

Familial Hypercholesterolaemia

Genomics (GenQA)

Molecular testing for FH.