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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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
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
Melanoma (DNA) M7.1, M7.2 Oncology DNA panel, simple targeted mutation testing (BRAF Only) BRAF, KIT, NRAS Download Service information sheet Download Request Form
MusculoSkeletal - Ehlers-Danlos Syndromes (EDS) Gene Panel  Specialist Rare Disease Medium Panel Ehlers Danlos Syndromes Download Service information sheet Download Request Form
Myeloma Service M92.2, M92.4, M92.5, M92.8, M92.10, M92.11, M92.12 Haematology FISH TP53, IGH, MAF, CCND1, FGFR3, CDKN2C, CKS1B Download Service information sheet Download Request Form
Myotonic dystrophy type 1 R72.1 Neurology STR testing DMPK STR Download Service information sheet Download Request Form
Myotonic dystrophy type 2 (DM2) R410 Neurology STR testing CNBP (ZNF9) STR Download Service information sheet Download Request Form
Neurofibromatosis type 1 (NF1) R222 Cancer Genetics DNA NGS panel NF1 Download Service information sheet Download Request Form
Next Generation Sequencing for Myeloid Malignancies M80.2, M82.1, M85.1, M89.4 Haematology 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
Non Small Cell Lung Cancer, NSCLC (Circulating Tumour DNA, ctDNA) M4.5 Oncology Simple targeted mutation testing EGFR Download Service information sheet Download Request Form Download Request Form
Non Small Cell Lung Cancer, NSCLC (DNA) M4.1 Oncology DNA Panel EGFR, ALK, BRAF, KRAS ROS1, RET, ELM4-ALK, NTRK1, NTRK2, NTRK3 Download Service information sheet Download Request Form
Non Small Cell Lung Cancer, NSCLC (FISH) M4.6, M4.10 Oncology FISH ALK, ROS1 (Confirmation of IHC results by prior arrangement) Download Service information sheet Download Request Form
Non small cell lung cancer, NSCLC (RNA) M4.2 Oncology Panel Simple targeted mutation testing FISH/Simple targeted mutation testing ALK, ROS1, RET, MET, EGFR, NTRK 1, NTRK 2, NTRK 3 Download Service information sheet Download Request Form
Non-Invasive Prenatal Testing (NIPT) NA Prenatal Massively Parallel Shotgun Sequencing Chromosomes 13, 18 and 21 Download Service information sheet Download Request Form Download Request Form
NTRK (FISH) M85.34, M127.1 Oncology FISH NTRK1, NTRK2, NTRK3 Download Request Form Download Request Form
NTRK (RNA) M1.6, M2.3, M215. M3.5, M4.2, M231.2, M5.2, M6.2, M7.3, M187.4, M8.2. M9.2, M9.4, M10.2, M11.4, M12.2 . M13.2, M14.4, M15.2, M15.6, M16.2, M17.2, M18.6, M217.3, M218.2, M219.2, M220.1, M221.1, M222.2, M226.1, M227.1, M20.5, M21.21, M22.9, M23.11, M24.6, M25.9, M26.4, M27.15, M28.8, M29.8, M30.4, M31.6, M32.5, M34.7, M35.8, M36.14, M37.4, M38.5, M39.4, M183.9, M184.8, M185.5, M186.8, M213.2, M189.2, M190.2, M191.21, M192.21, M193.21, M194.24, M42.5, M43.3, M45.4, M46.3, M47.3, M48.3, M49.1, M50.3, M52.3, M53.5, M55.1, M56.3, M57.1, M58.3, M60.3, M61.1, M62.3, M63.3, M64.3, M65.3, M66.3, M67.3, M68.4, M70.3, M71.3, M72.1, M73.3, M74.3, M75.3, M75.1, M76.3, M77.3, M78.1, M79.3, M196.4, M198.5, M199.2, M200.1, M201.4, M202.7, M203.6, M204.6, M205.8, M206.8, M207.7, M208.1, M209.5, M210.1, M211.4, M85.3, M119.2, M120.6, M124.10, M126.3, M127.4, M195.4, M130.5, M131.5, M132.2, M133.4, M136.3, M137.2, M138.3, M139.2, M143.5, M145.14, M146.7, M147.8, M148.9, M149.3, M150.8, M151.6, M152.16, M153.5, M155.4, M156.9, M157.3, M158.6, M159.6, M160.2, M161.5, M162.9, M165.7, M212.15, M166.3, M167.5, M168.6, M169.5, M170.7, M171.8, M172.7, M173.3, M174.4, M178.4, M179.10, M180.7 Oncology RNA NTRK1, NTRK2, NTRK3 Download Request Form Download Request Form
Opthamology - Leber Hereditary Optic Neuropathy (LHON) R42.1  Specialist Rare Disease Targeted mutation testing Three common LHON variants Download Service information sheet Download Request Form
Ovarian Cancer (blood testing) M2.1 Oncology DNA NGS Panel BRCA1, BRCA2 Download Service information sheet Download Request Form
Ovarian Cancer (tumour testing) M2.1, M2.5 Oncology DNA NGS panel or Myriad HRD testing BRCA1/2 and/or Genomic Instability Download Service information sheet Download Request Form
Parkinson’s Disease (PD) Neurology Single Gene Sequencing, MLPA, Targeted Mutation Testing PARK2, DJ1, PINK1, LRRK2 Download Service information sheet Download Request Form
Peutz-Jegher Syndrome R212 Cancer Genetics DNA NGS panel STK11 Download Request Form
Pilot study – Non-Invasive-Prenatal Testing (NIPT) in pregnancies with fetal anomalies Prenatal Massively Parallel Shotgun Sequencing Chromosomes 13, 18 and 21 Download Service information sheet Download Request Form
Polyposis, including Familial Adenomatous Polyposis (FAP, AFAP) and MUTYH-associated Polyposis (MAP) R211 Cancer Genetics DNA NGS panel APC, MUTYH, BMPR1A, SMAD4, POLD1, POLE Download Service information sheet Download Request Form
Postnatal Cytogenetic Analysis R297, R265, R314, R146 Developmental Delay Karyotype Common aneuploidy testing Microarray As determined by indication Genomewide Sex chromosomes Download Request Form
Prenatal Cytogenetic Analysis R401, R22 Prenatal Common aneuploidy testing Microarray Genomewide Download Service information sheet Download Request Form
Prenatal Service: Abnormal Scan Single Nucleotide Polymorphism Array (SNP Array) R22 Prenatal Download Service information sheet Download Request Form Download Request Form
PTEN hamartoma syndrome (PTEN), Cowden Syndrome R213 Cancer Genetics DNA NGS Panel PTEN Download Request Form
QF-PCR Aneuploidy Screening R401.1, R26, R314.1 Prenatal Common aneuploidy testing Genomewide Sex chromosomes Download Service information sheet Download Request Form
Respiratory - Cystic Fibrosis (CF) R184.1 Specialist Rare Disease Targeted Testing CFTR 8 common Welsh variants, CFTR 50 common European variants Download Service information sheet Download Request Form
Sarcoma M42.1, M42.2, M43.1, M45.1, M45.2, M48.1, M50.1, M56.1, M58.1, M62.1, M63.1, M63.2, M66.1, M67.1, M68.3, M74.1, M76.1, M77.1, M79.1, M196.1, M197.2, M197.3, M197.4, M197.8, M198.1, M199.3, M199.4, M199.5, M199.6, M199.7, M199.8, M199.9, M199.10, M200.2 Pathology FISH PAX3-FOXO1,TFE3, EWSR1, COL1A1-PDGFB, NR4A3, ETV6-NTRK3, TPM4-ALK, TPM3-ALK, EWSR1, DDIT3, MDM2, MYC, FUS, SS18. FOXO1, USP6 Download Request Form
Severe Infantile Epilepsy 116 Gene Panel Neurology Large Panel Infantile Epilepsy Syndromes Download Service information sheet Download Request Form
Single nucleotide polymorphism (SNP) array Service for Developmental Disorders R337.1 Developmental Delay SNP Array Whole genome CNV Download Service information sheet Download Request Form Download Request Form
Solid Tissue Cytogenetic Analysis R318, R322 Prenatal Common aneuploidy testing Microarray Genomewide Download Service information sheet Download Request Form
Spinal Muscular Atrophy (SMA) Type I / II / III / IV R70 Neurology MLPA or equivalent SMN1 Download Service information sheet Download Request Form
Spinocerebellar Ataxia Type 1 / 2 / 3 / 6 / 7 / 17 (SCA1 / 2 / 3 / 6 / 7 / 17) Neurology STR Testing ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Download Service information sheet Download Request Form
Systemic Mastocytosis M86.2 Haematology Simple targeted mutation testing cKIT Download Request Form
Thyroid (DNA) M9.1, M10.1, M11.1, M12.1 Oncology DNA Panel BRAF, KRAS, NRAS, HRAS RET TP53 Download Service information sheet Download Request Form
Thyroid (RNA) M9.2, M10.2, M11.4, M12.2 Oncology RNA Panel NTRK1, NTRK2, NTRK3, RET, EGFR Download Service information sheet Download Request Form
Tuberous Sclerosis Complex R228 Cancer Genetics DNA NGS panel TSC1, TSC2 Download Service information sheet Download Request Form
Validation of copy number variants using real-time quantitative PCR (qPCR) R240.1, R244.1 Developmental Delay Targeted Mutation Testing Specific Target Download Service information sheet Download Request Form
Waldenstrom Macroglobulinemia (WM) service / lymphoplasmacytic lymphoma M104.2 Haematology Simple targeted mutation testing MYD88 Download Service information sheet Download Request Form