The All Wales Medical Genomic Service (AWMGS) laboratory services delivers a wide range of genetic and genomic analysis services for both rare disease, cancer and pharmacogenetics to the Welsh population, UK and internationally. As part of an integrated genomic service, the laboratory also works in close collaboration with Clinical Consultant Geneticists colleagues and with other disciplines, including obstetrics, paediatrics and oncology services.
The AWMGS is committed to provide a service of the highest quality.

 
Please use the following table to view the tests available. For ease, you can either retrieve the desired test by entering a keyword into the search box below, or select from one of the following drop down’s menus to index by test directory code (if known), ‘Speciality’, ‘Target’ (gene) and ‘method’.

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Once you have located the desired test, there are 3 download options to the right hand side. The first download icon refers to the service information sheet which contains more detailed particulars of the test including sample requirements and contact information, the second download option provides a link to the request form and the third download option contains any additional useful documentation (where applicable) such as clinical guidance etc.
If you are unable to locate the test you require, or if you have any additional requirements, please contact the service using the contact information found here and a member of our team will be happy to assist you.
Where indicated, the tests we provide which are comparable to the test directory are indicated with an ‘R’ or ‘M’ number.
You can find links to the NHS England Test Directory and additional information here.
 

Key:
Download Service information sheet Service information sheet.
Download Request FormRequest Form.
Download Additional DocumentationAdditional Documentation
Filter by category
Service Code Speciality Method Target Download
Acute Myeloid Leukemia (AML) M80.18, M80.21, M80.22, M80.29, M80.29, M80.41, M80.42, M80.43 Haematology DNA, RNA .CBFB-MYHII, RUNX1-RUNX1T1, FLT3-ITD, FLT3-TKD, NPM1, ASXL1, BCOR, CALR, CEBPA, CBL, DNMT3A, EZH2, ETV6, FLT3, GATA2, IDH1, IDH2, JAK2, KRAS, KIT, MPL, NRAS, NPM1, NOTCH1, PDGFRA, RUNX1, SF3B1, SRSF2, SETBP1, TET2, TP53, U2AF1 Download Service information sheet Download Request Form
All Wales Infants’ and ChildreN’s Genome Service - WINGS R14 Acutely Unwell Children Whole Genome Sequencing Paediatric Disorders Download Service information sheet Download Request Form
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) R58.3 Neurology STR Testing C9ORF72 Download Service information sheet Download Request Form
Becker Muscular Dystrophy (BMD) Duchenne Muscular Dystrophy (DMD) R73.2 Neurology MLPA or equivalent DMD Download Service information sheet Download Request Form
BRCA1 and BRCA2 on archive tissue R386 Cancer Genetics DNA NGS Panel BRCA1, BRCA2 Download Service information sheet
Breast Cancer (FISH) M3.2, M3.3, M3.4 Oncology FISH HER2
Cardiac - Aortopathy (Marfan, Aortopathy and Connective Tissue Disorders - MAC) 23 Gene Panel Specialist Rare Disease Medium Panel Aortopathy and Marfan Syndrome Disorders Download Service information sheet Download Request Form
CDH1-related cancer syndrome (CDH1) R215 Cancer Genetics DNA NGS Panel CDH1 Download Request Form
Charcot-Marie-Tooth Disease Type 1A (CMT1A Hereditary Motor and Sensory Neuropathy Type 1A, HMSN1A) R77 Neurology MLPA or equivalent PMP22 Download Service information sheet Download Request Form
Cholangiocarcinoma M220.1 Oncology FISH FGFR2 Download Service information sheet Download Request Form
Chronic lymphocytic Leukemia (CLL) Service M94.4, M94.7, M94.8 Haematology FISH, Single Gene Sequencing ATM, TP53 Download Service information sheet Download Request Form
Chronic Myeloid Leukemia (CML) Service M84.1, M84.2, M84.3, M84.4 Haematology DNA, Cytogenetics BCR-ABL1 Download Service information sheet Download Request Form
Colorectal Cancer (Circulating Tumour DNA, ctDNA) M1.2, M1.3 Oncology Simple Targeted Mutation Testing KRAS, NRAS Download Service information sheet Download Request Form Download Request Form
Colorectal Cancer (DNA) M1.1 Oncology DNA NGS Panel KRAS, NRAS, BRAF, PTEN, PIK3CA, TP53, EGFR Download Service information sheet Download Request Form
Colorectal Cancer (RNA) M1.6 Oncology RNA NGS Panel NTRK1, NTRK2, NTRK3 Download Request Form Download Request Form
Congenital Malformation Syndromes and/or Dysmorphism Service R27 Core Rare Disease Whole Genome Sequencing, Whole Exome Sequencing Congenital Malformation Syndromes and/or Dysmorphism Related Disorders Download Service information sheet Download Request Form Download Request Form
Cortical Brain Malformations Panel Neurology Large Panel Cortical Malformation Syndromes Download Service information sheet Download Request Form
CYmru Service for Genomic Oncology DIagnoses – CYSGODI Oncology Download Service information sheet Download Request Form
DICER1-related cancer predisposition R364 Cancer Genetics DNA NGS Panel DICER1 Download Request Form
DPYD pharmacogenomic testing for 5FU chemotherapy NA Pharmacogenomics Targeted Testing DPYD Download Service information sheet Download Request Form
Duchenne Muscular Dystrophy (DMD) R73.2 Neurology MLPA or equivalent DMD Download Service information sheet Download Request Form
Endocrinology - FMR1 related premature ovarian failure R402.2 Specialist Rare Disease STR testing FMR1 STR Download Service information sheet Download Request Form
Endometrial Cancer M215.2 Oncology Pyrosequencing MLH1 promoter hypermethylation Download Request Form
Fanconi Anemia (FA) R251.8 Haematology Cytogenetics DNA repair defects in the FA genes Download Service information sheet
Fetal Anomaly Gene Panel (FAGP) R21 Prenatal Whole Exome Sequencing Fetal Anomalies Disorders Download Service information sheet Download Request Form
Fragile X (A) syndrome R53 Developmental Delay STR testing FMR1 STR Download Service information sheet Download Request Form
Fragile X Tremor / Ataxia syndrome Neurology STR Testing FMR1 STR Download Service information sheet Download Request Form
Gastrointestinal Stromal Tumours (GIST) RNA M8.2 Oncology RNA Panel NTRK1, NTRK2, NTRK3 Download Service information sheet Download Request Form
Gastrointestinal Stromal Tumours, GIST (DNA) M8.1 Oncology DNA Panel KIT, PDGFRA Download Service information sheet Download Request Form
Glioma (DNA) M21.1, M23.1, M27.1, M29.1, M31.2, M32.1, M33.3, M34.1, M35.1 Pathology DNA Panel IDH1, IDH2, BRAF, EGFR, ATRX, H3F3A, TERT, PTEN, TP53, CDKN2A Download Service information sheet Download Request Form
Glioma (FISH) M28.6, M29.5, M31.3, M32.3, M21.6, M23.8, M27.7, M34.4, M35.2, M191.12, M192.12, M193.12 Pathology FISH 1p19q Download Service information sheet Download Request Form
GLIOMA (MGMT promoter hypermethylation) M27.6, M29.3, M31.1, M191.17, M192.17, M193.17 Pathology Targeted Mutation Testing MGMT Download Service information sheet Download Request Form
Glioma (RNA) M21.21, M23.11, M27.15, M28.8, M29.8, M31.6, M32.5, M33.3, M34.7, M35.8, M36.14 Pathology RNA Panel RET, EGFR, NTRK1,2,3 Download Service information sheet Download Request Form
Haemato-oncology Genetic Analysis M80.3, M82.2, M83.1 Haematology Karyotype or equivalent Detection of Complex karyotype, Monosomal karyotype and structural rearrangements Download Service information sheet Download Request Form
Haemochromatosis (HFE) R95 Haematology Targeted mutation testing HFE common variants Download Service information sheet Download Request Form
Hearing - Non-syndromic Sensorineural Hearing Loss (DFNB1) Specialist Rare Disease Single gene sequencing and CNV analysis GJB2 sequencing and GJB6 deletions Download Service information sheet Download Request Form
Hereditary Breast/Ovarian Cancer R208 Cancer Genetics DNA NGS Panel BRCA1, BRCA2, PALB2, PTEN, STK11, TP53 Download Service information sheet Download Request Form
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) R77 Neurology MLPA or equivalent PMP22 Download Service information sheet Download Request Form
Huntington Disease (HD) R68 Neurology STR testing HTT STR Download Service information sheet Download Request Form
Immunology - Complement Component Deficiencies Specialist Rare Disease Small Panel Complement component Genes Download Service information sheet Download Request Form
Immunology - Hereditary Angioedema [HAE] types I, II, III R341, R368 Specialist Rare Disease Single gene sequencing >=10 amplicons MLPA, Targeted Mutation Testing SERPING1, F12, PLG, ANGPT1 Download Service information sheet Download Request Form
Immunology - Primary Immunodeficiency Disease [PID] Panel Specialist Rare Disease Large Panel Primary Immunodeficiency Disorders Download Service information sheet Download Request Form
Intellectual Disability Service R29 Core Rare Disease Whole Genome Sequencing, Whole Exome Sequencing Intellectual Disability Related Disorders Download Service information sheet Download Request Form Download Request Form
Legius Syndrome (NFLS, Neurofibromatosis Type 1-like Syndrome) R236 Cancer Genetics Single gene sequencing, MLPA SPRED1 Download Service information sheet Download Request Form
Li Fraumeni syndrome (TP53) R216 Cancer Genetics DNA NGS Panel TP53 Download Request Form
LIPIDS - Familial Hypercholesterolaemia (FH) R134 Specialist Rare Disease Small panel Familial hypercholesterolaemia – targeted panel (772) Download Service information sheet Download Request Form Download Request Form
LIPIDS - Type III hyperlipidaemia (hyperlipoproteinemia, type III Apoliporprotein E, APOE genotyping Specialist Rare Disease Targeted Testing APOE E2 variant Download Service information sheet Download Request Form
Lymphoma Service M95.3, M96, M97.1, M98.1, M99.1-M99.7, M101.1, M102.1, M102.2, M103.1-M103.3, M107.4, M107.5, M111.2, M182.2, 225.1,225.3 Haematology FISH, complex targeted mutation testing MYC, BCL2, BCL6, 11q MYC-IGH, MYC-IGK MYC-IGL, IGH-BCL2, IGH-CCND1, P53-CEN17 ALK, IRF4, TP63, DUSP22, TCRB, TCRG, MALT Download Request Form
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) M1.4, M1.5 Oncology Microsatellite instability or IHC MSI or MMR (MLH1, MSH2, MSH6, PMS2) deficiency Download Service information sheet Download Request Form
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) follow-up M1.5 Pathology Pyrosequencing BRAF hotspot, MLH1 Promoter hypermethylation Download Service information sheet Download Request Form