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 Genetics Doctors and colleagues from 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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Where indicated, the tests we provide which are comparable to the test directory are indicated with an ‘R’ or ‘M’ number.
'R numbers' correspond to rare and inherited disease tests.
'M numbers' correspond to (somatic) cancer tests.
 
If the test you are looking for is not shown here, it may be one that we send to a laboratory outside Wales, please contact us for further information.
 
You can find links to the NHS England Test Directory below:
   Rare and inherited disease (including inherited cancers)download icon new
download icon new   National genomic test directory for cancer
 

Key:
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Service R or M Code Speciality Method Target Gene 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 Download Request Form
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) R58.3 Neurology STR Testing C9ORF72 Download Service information sheet Download Request Form
Angioimmunoblastic T cell lymphoma (AITCL) M111.1 Haematology DNA panel DNMT3A, TET2, IDH2, RHOA 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
Bone Marrow Post Transplant Chimerism Request Haematology Download Request Form
Bone Marrow Pre-transplant Minisatellite Request Haematology Download Request Form
BRCA1 and BRCA2 on archive tissue R386 Cancer Genetics DNA NGS Panel BRCA1, BRCA2 Download Service information sheet
Breast Cancer M3.6 Oncology DNA NGS Panel (Small Variant Detection) PIK3CA Download Service information sheet Download Request Form Download Request Form
Breast Cancer (FISH) M3.2, M3.3, M3.4 Oncology FISH HER2 Download Request Form
Breast cancer (oncology) R208 R444.1 Oncology DNA NGS panel BRCA1, BRCA2, PALB2, ATM, CHEK2, RAD51C, RAD51D Download Request Form
Cancer of unknown primary (CUP) - DNA M226.4 Oncology DNA NGS Panel Androgen receptor, ARID1A, ATRX, BRAF, BRCA1, BRCA2, CDKN2A, EGFR, ESR1, ERBB2, H3F3A, HRAS, IDH1, IDH2, KIT, KRAS, NRAS, PDGFRA, PIK3CA, PTEN, RET, TERT, TP53 Download Service information sheet Download Request Form
Cancer of unknown primary (CUP) - RNA M226.4 Oncology RNA NGS Panel ALK, BRAF, EGFR, MET, NTRK1, NTRK2, NTRK3, RET, ROS1 Download Service information sheet Download Request Form
CDH1-related cancer syndrome (CDH1) R215 Cancer Genetics DNA NGS Panel CDH1 Download Request Form
Cerebral Malformations Gene Panel R87 Neurology Large Panel Cortical Malformation Syndromes Download Service information sheet 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 M220.6 & M220.7 Oncology FISH & DNA NGS Panel FGFR2 & IDH1 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
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
CYmru Service for Genomic Oncology DIagnoses – CYSGODI Oncology Download Service information sheet Download Request Form 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
Early Onset or Syndromic Epilepsy Gene Panel R59 Neurology Large Panel Infantile Epilepsy Syndromes 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 M215.5 Pathology DNA NGS Panel POLE, (TP53 optional) Download Service information sheet Download Request Form Download Request Form
Endometrial Cancer M215.2 Oncology Pyrosequencing MLH1 promoter hypermethylation Download Service information sheet Download Request Form Download Request Form
Familial Melanoma R254 Cancer Genetics DNA NGS panel CDKN2A, CDK4 and BAP1 Download Service information sheet 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, H3-3A, 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 BRAF, 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 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 - 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 Exome Sequencing, Whole Genome Sequencing Intellectual Disability Related Disorders Download Service information sheet 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