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Service information sheet.
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Additional Documentation
Service
Acute Myeloid Leukemia (AML)
All Wales Infants’ and ChildreN’s Genome Service - WINGS
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)
Angioimmunoblastic T cell lymphoma (AITCL)
BRCA1 and BRCA2 on archive tissue
Becker Muscular Dystrophy (BMD) Duchenne Muscular Dystrophy (DMD)
Bone Marrow Post Transplant Chimerism Request
Bone Marrow Pre-transplant Minisatellite Request
Breast Cancer
Breast Cancer (FISH)
Breast cancer (oncology)
CDH1-related cancer syndrome (CDH1)
CYmru Service for Genomic Oncology DIagnoses – CYSGODI
Cancer of unknown primary (CUP) - DNA
Cancer of unknown primary (CUP) - RNA
Cerebral Malformations Gene Panel
Charcot-Marie-Tooth Disease Type 1A (CMT1A Hereditary Motor and Sensory Neuropathy Type 1A, HMSN1A)
Cholangiocarcinoma
Chronic Myeloid Leukemia (CML) Service
Chronic lymphocytic Leukemia (CLL) Service
Colorectal Cancer (Circulating Tumour DNA, ctDNA)
Colorectal Cancer (DNA)
Colorectal Cancer (RNA)
Congenital Malformation Syndromes and/or Dysmorphism Service
DICER1-related cancer predisposition
DPYD pharmacogenomic testing for 5FU chemotherapy
Early Onset or Syndromic Epilepsy Gene Panel
Ectodermal Dysplasia
Endocrinology - FMR1 related premature ovarian failure
Endometrial Cancer
Endometrial Cancer
Familial Melanoma
Fanconi Anemia (FA)
Fetal Anomaly Gene Panel (FAGP)
Fragile X (A) syndrome
Fragile X Tremor / Ataxia syndrome
GLIOMA (MGMT promoter hypermethylation)
Gastrointestinal Stromal Tumours (GIST) RNA
Gastrointestinal Stromal Tumours, GIST (DNA)
Glioma (DNA)
Glioma (FISH)
Glioma (RNA)
Haemato-oncology Genetic Analysis
Haemochromatosis (HFE)
Hearing - Non-syndromic Sensorineural Hearing Loss (DFNB1)
Hereditary Breast/Ovarian Cancer
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
Huntington Disease (HD)
Immunology - Hereditary Angioedema [HAE] types I, II, III
Immunology - Primary Immunodeficiency Disease [PID] Panel
Intellectual Disability Service
LIPIDS - Familial Hypercholesterolaemia (FH)
LIPIDS - Type III hyperlipidaemia (hyperlipoproteinemia, type III Apoliporprotein E, APOE genotyping
Legius Syndrome (NFLS, Neurofibromatosis Type 1-like Syndrome)
Li Fraumeni syndrome (TP53)
Lymphoma Service
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) follow-up
Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) gene screen
Melanoma (DNA)
MusculoSkeletal - Ehlers-Danlos Syndromes (EDS) Gene Panel
Myelodysplasia
Myeloma Service
Myotonic dystrophy type 1
Myotonic dystrophy type 2 (DM2)
NTRK (RNA)
Neurofibromatosis type 1 (NF1)
Next Generation Sequencing for Myeloid Malignancies
Non Small Cell Lung Cancer, NSCLC (Circulating Tumour DNA, ctDNA)
Non Small Cell Lung Cancer, NSCLC (DNA)
Non Small Cell Lung Cancer, NSCLC (FISH)
Non small cell lung cancer, NSCLC (RNA)
Non-Invasive Prenatal Testing (NIPT)
Opthamology - Leber Hereditary Optic Neuropathy (LHON)
Ovarian Cancer (blood testing)
Ovarian Cancer (tumour testing)
PTEN hamartoma syndrome (PTEN), Cowden Syndrome
Peutz-Jegher Syndrome
Pilot study – Non-Invasive-Prenatal Testing (NIPT) in pregnancies with fetal anomalies
Polyposis, including Familial Adenomatous Polyposis (FAP, AFAP) and MUTYH-associated Polyposis (MAP)
Postnatal Cytogenetic Analysis
Pregnancy Related Rapid Sequencing (R14)
Prenatal Cytogenetic Analysis
Prenatal Service: Abnormal Scan Single Nucleotide Polymorphism Array (SNP Array)
Prostate BRCA test (PARP inhibitor eligibility) - Blood
Prostate BRCA test (PARP inhibitor eligibility) - Tumour (NTRK can also be requested on this form)
QF-PCR Aneuploidy Screening
Rapid BRAF testing for metastatic melanoma (FFPE)
Rapid BRAF testing for metastatic melanoma (ctDNA)
Respiratory - Cystic Fibrosis (CF)
Sarcoma
Single nucleotide polymorphism (SNP) array Service for Developmental Disorders
Solid Tissue Cytogenetic Analysis
Spinal Muscular Atrophy (SMA) Type I / II / III / IV
Spinocerebellar Ataxia Type 1 / 2 / 3 / 6 / 7 / 17 (SCA1 / 2 / 3 / 6 / 7 / 17)
Systemic Mastocytosis
Thyroid (DNA)
Thyroid (RNA)
Tuberous Sclerosis Complex
Validation of copy number variants using real-time quantitative PCR (qPCR)
Waldenstrom Macroglobulinemia (WM) service / lymphoplasmacytic lymphoma
Whole Exome Sequencing for Rare Diseases (WES)
Whole Genome Sequencing for Rare Diseases (WGS)
R or M Code
M2.1, M2.5
R184.1
R77
R87
R73.2
R72.1
R410
R59
R134
R53
R402.2
R215
R213
R216
R364
R341, R368
R95
R68
M1.4, M1.5
R236
M1.1
R42.1
R22
R240.1, R244.1
R14
R70
R401.1, R26, R314.1
NA
R401, R22
R318, R322
M1.2, M1.3
M8.1
M4.1
M4.5
M4.2
M9.1, M10.1, M11.1, M12.1
M80.3, M82.2, M83.1
M80.2, M82.1, M85.1, M89.4
M220.6 & M220.7
M8.2
M1.5
R208
M2.1
R228
R222
R211
R212
M215.2
M94.4, M94.7, M94.8
R251.8
M92.2, M92.4, M92.5, M92.8, M92.10, M92.11, M92.12
M104.2
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
M21.21, M23.11, M27.15, M28.8, M29.8, M31.6, M32.5, M33.3, M34.7, M35.8, M36.14
M28.6, M29.5, M31.3, M32.3, M21.6, M23.8, M27.7, M34.4, M35.2, M191.12, M192.12, M193.12
M7.1, M7.2
M4.6, M4.10
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
R386
M27.6, M29.3, M31.1, M191.17, M192.17, M193.17
M21.1, M23.1, M27.1, M29.1, M31.2, M32.1, M33.3, M34.1, M35.1
M80.18, M80.21, M80.22, M80.29, M80.29, M80.41, M80.42, M80.43
R58.3
M84.1, M84.2, M84.3, M84.4
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
M1.6
R21
R337.1
M86.2
R163
R29
R297, R265, R314, R146
M215.5
M3.6
M111.1
R27, R29, WINGS/R14
R27, R29
R27
R254
R210
n/a
M3.2, M3.3, M3.4
R208 R444.1
M226.4
M82
M9.2, M10.2, M11.4, M12.2
R444.2
M218.1
Speciality
Oncology
Specialist Rare Disease
Neurology
Developmental Delay
Cancer Genetics
Haematology
Prenatal
Acutely Unwell Children
Pharmacogenomics
Pathology
Core Rare Disease
Rare Disease
Haematological Malignancy
Method
DNA NGS panel or Myriad HRD testing
Targeted Testing
MLPA or equivalent
Large Panel
Single gene sequencing and CNV analysis
STR testing
Medium Panel
Small panel
DNA NGS Panel
Single gene sequencing >=10 amplicons MLPA, Targeted Mutation Testing
Targeted mutation testing
Microsatellite instability or IHC
Single gene sequencing, MLPA
Whole Genome Sequencing
Common aneuploidy testing
Massively Parallel Shotgun Sequencing
Common aneuploidy testing Microarray
Simple Targeted Mutation Testing
DNA Panel
Panel Simple targeted mutation testing FISH/Simple targeted mutation testing
Karyotype or equivalent
FISH & DNA NGS Panel
RNA Panel
Pyrosequencing
FISH, Single Gene Sequencing
Cytogenetics
FISH
FISH, complex targeted mutation testing
DNA panel, simple targeted mutation testing
DNA, RNA
DNA, Cytogenetics
RNA
RNA NGS Panel
Whole Exome Sequencing
SNP Array
Whole Exome Sequencing, Whole Genome Sequencing
Karyotype Common aneuploidy testing Microarray
DNA NGS Panel (Small Variant Detection)
Whole Genome Sequencing, Whole Exome Sequencing
ctDNA Pyrosequencing (BRAF only)
FFPE Pyrosequencing (BRAF only)
Target Gene
BRCA1/2 and/or Genomic Instability
CFTR 8 common Welsh variants, CFTR 50 common European variants *Please note CF50 tests are currently being referred to an external lab until 30/11/23
PMP22
Cortical Malformation Syndromes
GJB2 sequencing and GJB6 deletions
DMD
DMPK STR
CNBP (ZNF9) STR
Ehlers Danlos Syndromes
Infantile Epilepsy Syndromes
Familial hypercholesterolaemia – targeted panel (772)
FMR1 STR
CDH1
PTEN
TP53
DICER1
SERPING1, F12, PLG, ANGPT1
HFE common variants
HTT STR
MSI or MMR (MLH1, MSH2, MSH6, PMS2) deficiency
SPRED1
KRAS, NRAS, BRAF, PTEN, PIK3CA, TP53, EGFR
Three common LHON variants
Primary Immunodeficiency Disorders
Specific Target
Paediatric Disorders
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP
SMN1
Genomewide Sex chromosomes
Chromosomes 13, 18 and 21
Genomewide
DPYD
KRAS, NRAS
KIT, PDGFRA
EGFR, ALK, BRAF, KRAS ROS1, RET, ELM4-ALK, NTRK1, NTRK2, NTRK3
EGFR
ALK, ROS1, RET, MET, EGFR, NTRK 1, NTRK 2, NTRK 3
BRAF, KRAS, NRAS, HRAS RET TP53
Detection of Complex karyotype, Monosomal karyotype and structural rearrangements
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
FGFR2 & IDH1
NTRK1, NTRK2, NTRK3
BRAF hotspot, MLH1 Promoter hypermethylation
BRCA1, BRCA2, PALB2, PTEN, STK11, TP53
BRCA1, BRCA2
TSC1, TSC2
NF1
APC, MUTYH, BMPR1A, SMAD4, POLD1, POLE
STK11
MLH1 promoter hypermethylation
ATM, TP53
DNA repair defects in the FA genes
TP53, IGH, MAF, CCND1, FGFR3, CDKN2C, CKS1B
MYD88
MYC, BCL2, BCL6, 11q MYC-IGH, MYC-IGK MYC-IGL, IGH-BCL2, IGH-CCND1, P53-CEN17 ALK, IRF4, TP63, DUSP22, TCRB, TCRG, MALT
BRAF, EGFR, NTRK1,2,3
1p19q
BRAF, KIT, NRAS
ALK, ROS1 (Confirmation of IHC results by prior arrangement)
PAX3-FOXO1,TFE3, EWSR1, COL1A1-PDGFB, NR4A3, ETV6-NTRK3, TPM4-ALK, TPM3-ALK, EWSR1, DDIT3, MDM2, MYC, FUS, SS18. FOXO1, USP6
MGMT
IDH1, IDH2, BRAF, EGFR, ATRX, H3-3A, TERT, PTEN, TP53, CDKN2A
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
C9ORF72
BCR-ABL1
APOE E2 variant
Fetal Anomalies Disorders
Whole genome CNV
cKIT
Ectodermal Dysplasia
Intellectual Disability Related Disorders
As determined by indication Genomewide Sex chromosomes
POLE, (TP53 optional)
PIK3CA
DNMT3A, TET2, IDH2, RHOA
Congenital Malformation Syndromes and/or Dysmorphism Related Disorders
CDKN2A, CDK4 and BAP1
MLH1, MSH2, MSH6
BRAF
HER2
BRCA1, BRCA2, PALB2, ATM, CHEK2, RAD51C, RAD51D
Androgen receptor, ARID1A, ATRX, BRAF, BRCA1, BRCA2, CDKN2A, EGFR, ESR1, ERBB2, H3F3A, HRAS, IDH1, IDH2, KIT, KRAS, NRAS, PDGFRA, PIK3CA, PTEN, RET, TERT, TP53
ALK, BRAF, EGFR, MET, NTRK1, NTRK2, NTRK3, RET, ROS1
NTRK1, NTRK2, NTRK3, RET, EGFR
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R or M Code
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Method
Target Gene
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Waldenstrom Macroglobulinemia (WM) service / lymphoplasmacytic lymphoma
M104.2
Haematology
Simple targeted mutation testing
MYD88
Whole Exome Sequencing for Rare Diseases (WES)
R27, R29
Rare Disease
Whole Exome Sequencing
Whole Genome Sequencing for Rare Diseases (WGS)
R27, R29, WINGS/R14
Rare Disease
Whole Genome Sequencing
