Bristol Genetics Laboratory (BGL) is accredited by UKAS to ISO 15189:2022 for Medical Laboratories, with customer number 9307 (see UKAS certificate).
Details of activities that are currently provided under the scope of accreditation can be found at:
Unaccredited tests
In certain circumstances laboratory tests will be performed outside the scope of accreditation. This may arise when new services are introduced, for which UKAS accreditation is yet to be awarded. Application for extension to the laboratory scope will be submitted, however, whilst accreditation is pending the test continues to be performed to the same rigorous internal quality control standards and protocols as accredited tests. It should be noted that elements of the Whole Genome Sequencing service are undertaken by an external provider and are, therefore, provided outside the laboratory’s UKAS scope of accreditation.
Methods that are currently pending accreditation can be found below.
| Activity | Comments |
| Illumina Novaseq X Plus sequencer used in Next Generation Sequencing (NGS) | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Next Generation Sequencing (NGS) using Roche solid tumour and haemato-oncology RNA panels | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Myra Liquid Handling Robot used in preparation of digital droplet PCR assays | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Whole Genome Sequencing sample preparation, analysis and reporting | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Homologous Recombination Deficiency (HRD) service analysing shallow WGS data through SOPHiA DDM “GIInger” pipeline | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Scanning of MethylationEPIC Arrays for central nervous system tumours using Illumina iScan | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Use of Azure 280 for FSHD1 southern blotting image capture | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Oncology MSI-Plus NGS service | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Univ8 EuroClonality NGS DNA capture panel for MRD | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Illumina GSA Cyto SNP microarray and analysis using Bionano VIA software enterprise | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Extraction of DNA from saliva and buccal brush samples using the EZ1 Biorobot | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Automation of preparatory steps to extraction of DNA and RNA from FFPE using Promega MaxPrep | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| MDM2 amplification testing by Digital Droplet PCR (ddPCR) | Application to UKAS for extension to scope of accreditation submitted. Pending assessment. |
| Gene Amplification Detection on the RMH200ST Solid Tumour Assay and Pipeline | Application to UKAS for extension to scope in draft. Pending submission. |
External Quality Assessment
The laboratory participates in GenQA, UKNEQAS LI, EMQN and EuroMRD schemes, where available. A list of the schemes we participate in can be found below:
| Scheme | Organiser |
| AZF | EMQN |
| PKU | EMQN |
| FSHD1 ILC | EMQN |
| FSHD2 ILC | EMQN |
| PHOX2B ILC | EMQN |
| Acute Lymphoblastic Leukaemia (ALL) | GenQA |
| Ataxia, including Hereditary Spastic Paraplegia (HSP) | GenQA |
| BRCA testing for ovarian and prostate cancer – somatic | GenQA |
| BRCA testing for ovarian, breast, prostate and pancreatic cancer – germline | GenQA |
| Breast cancer (PIK3CA testing) | GenQA |
| Cardiac disorders | GenQA |
| Central Nervous System (CNS) tumours | GenQA |
| CF NBS Bloodspots | GenQA |
| Cholangiocarcinoma | GenQA |
| Chronic Lymphocytic Leukaemia (CLL) | GenQA |
| Chronic Lymphocytic Leukaemia (CLL) IGHV mutation status | GenQA |
| Chronic Lymphocytic Leukaemia (CLL) TP53 analysis | GenQA |
| Colorectal cancer – MMR (MSI) | GenQA |
| Cystic fibrosis and CFTR-related disorders | GenQA |
| DNA extraction from formalin-fixed paraffin embedded (FFPE) tissue | GenQA |
| DNA extraction from fresh tissue | GenQA |
| DNA extraction from saliva | GenQA |
| DNA extraction from venous blood | GenQA |
| DNA quantification | GenQA |
| Endometrial tumours | GenQA |
| Epilepsy disorders | GenQA |
| ESR1 testing in breast cancer – cfDNA | GenQA |
| Familial Colorectal Cancer and Polyposis | GenQA |
| Familial Hypercholesterolaemia | GenQA |
| Fragile X syndrome and FMR1-related disorders | GenQA |
| Gastrointestinal Stromal Tumours (GIST) | GenQA |
| Haematological Technical FISH | GenQA |
| Hereditary breast and ovarian cancer disorders | GenQA |
| Huntington disease and DRPLA | GenQA |
| Hypotonic infant | GenQA |
| Lung cancer – Circulating free (cf) DNA in lung cancer UPDATED | GenQA |
| Lung cancer – comprehensive molecular | GenQA |
| Lung cancer – fusions (molecular) | GenQA |
| Lymphoma | GenQA |
| Lymphoma Technical NGS (pilot) | GenQA |
| Maternal cell contamination (MCC) and fetal sexing | GenQA |
| MCADD NBS Bloodspots | GenQA |
| Melanoma | GenQA |
| Microsatellite Instability (MSI) | GenQA |
| Molecular Tissue identification | GenQA |
| Muscular dystrophies | GenQA |
| Myeloid disorders | GenQA |
| Myeloma | GenQA |
| Neurodegenerative disorders | GenQA |
| Next Generation Sequencing (NGS) for germline SNVs and indels | GenQA |
| NTRK fusions | GenQA |
| Pathogenicity of haematological neoplasm SNVs, CNVs and SVs | GenQA |
| Pathogenicity of somatic solid tumour SNVs, CNVs and SVs | GenQA |
| Pharmacogenomics: CYP2C19 (pilot) | GenQA |
| Pharmacogenomics: DPYD | GenQA |
| Pharmacogenomics: TPMT and NUDT15 | GenQA |
| Postnatal constitutional Copy Number Variant (CNV) detection | GenQA |
| Postnatal copy number variants (CNV) detection | GenQA |
| Postnatal karyotyping | GenQA |
| Pregnancy loss | GenQA |
| Prenatal constitutional copy number variation (CNV) detection | GenQA |
| Prenatal karyotyping | GenQA |
| Rapid prenatal testing for common aneuploidies | GenQA |
| Renal disorders | GenQA |
| Renal tumours | GenQA |
| Sarcoma | GenQA |
| Thyroid cancer | GenQA |
| Variant validation | GenQA |
| cfDNA extraction from plasma (somatic) | GenQA |
| DNA extraction from blood for long read sequencing (LRS) (pilot) | GenQA |
| IQNPath HRD Pliot | GenQA |
| BCR::ABL1 Major Quantification | UKNEQAS LI |
| BCR::ABL1 Minor Quantification | UKNEQAS LI |
| BRAF pVal600Glu (V600E) Mutation Status for Hairy Cell Leukaemia | UKNEQAS LI |
| FLT3 Mutation Status | UKNEQAS LI |
| Ig/TCR Clonality Status | UKNEQAS LI |
| KIT p.Asp816Val (D816V) Mutation Status for Mast Cell Disease | UKNEQAS LI |
| Lymphoid Gene panel | UKNEQAS LI |
| Measurable Residual Disease for AML by Molecular Methods | UKNEQAS LI |
| Myeloid Gene Panels | UKNEQAS LI |
| Myeloproliferative Neoplasms Diagnostic Testing | UKNEQAS LI |
| NPM1 Mutation Status | UKNEQAS LI |
| ALL | EuroMRD |
| KMT2A | EuroMRD |