Acute Myeloid Leukemia (AML)
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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 |
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All Wales Infants’ and ChildreN’s Genome Service - WINGS
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R14 |
Acutely Unwell Children |
Whole Genome Sequencing |
Paediatric Disorders |
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Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)
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R58.3 |
Neurology |
STR Testing |
C9ORF72 |
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Angioimmunoblastic T cell lymphoma (AITCL)
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M111.1 |
Haematology |
DNA panel |
DNMT3A, TET2, IDH2, RHOA |
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Becker Muscular Dystrophy (BMD)
Duchenne Muscular Dystrophy (DMD)
|
R73.2 |
Neurology |
MLPA or equivalent |
DMD |
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Bone Marrow Post Transplant Chimerism Request
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Haematology |
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|
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Bone Marrow Pre-transplant Minisatellite Request
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Haematology |
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BRCA1 and BRCA2 on archive tissue
|
R386 |
Cancer Genetics |
DNA NGS Panel |
BRCA1, BRCA2 |
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Breast Cancer
|
M3.6 |
Oncology |
DNA NGS Panel (Small Variant Detection) |
PIK3CA |
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Breast Cancer (FISH)
|
M3.2, M3.3, M3.4 |
Oncology |
FISH |
HER2 |
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Breast cancer (oncology)
|
R208 R444.1 |
Oncology |
DNA NGS panel |
BRCA1, BRCA2, PALB2, ATM, CHEK2, RAD51C, RAD51D |
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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 |
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Cancer of unknown primary (CUP) - RNA
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M226.4 |
Oncology |
RNA NGS Panel |
ALK, BRAF, EGFR, MET, NTRK1, NTRK2, NTRK3, RET, ROS1 |
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CDH1-related cancer syndrome (CDH1)
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R215 |
Cancer Genetics |
DNA NGS Panel |
CDH1 |
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Cerebral Malformations Gene Panel
|
R87 |
Neurology |
Large Panel |
Cortical Malformation Syndromes |
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Charcot-Marie-Tooth Disease Type 1A (CMT1A
Hereditary Motor and Sensory Neuropathy Type 1A, HMSN1A)
|
R77 |
Neurology |
MLPA or equivalent |
PMP22 |
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Cholangiocarcinoma
|
M220.6 & M220.7 |
Oncology |
FISH & DNA NGS Panel |
FGFR2 & IDH1 |
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Chronic lymphocytic Leukemia (CLL) Service
|
M94.4, M94.7, M94.8 |
Haematology |
FISH, Single Gene Sequencing |
ATM, TP53 |
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Chronic Myeloid Leukemia (CML) Service
|
M84.1, M84.2, M84.3, M84.4 |
Haematology |
DNA, Cytogenetics |
BCR-ABL1 |
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Colorectal Cancer (Circulating Tumour DNA, ctDNA)
|
M1.2, M1.3 |
Oncology |
Simple Targeted Mutation Testing |
KRAS, NRAS |
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Colorectal Cancer (DNA)
|
M1.1 |
Oncology |
DNA NGS Panel |
KRAS, NRAS, BRAF, PTEN, PIK3CA, TP53, EGFR |
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Colorectal Cancer (RNA)
|
M1.6 |
Oncology |
RNA NGS Panel |
NTRK1, NTRK2, NTRK3 |
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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 |
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CYmru Service for Genomic Oncology DIagnoses – CYSGODI
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Oncology |
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|
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DICER1-related cancer predisposition
|
R364 |
Cancer Genetics |
DNA NGS Panel |
DICER1 |
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DPYD pharmacogenomic testing for 5FU chemotherapy
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NA |
Pharmacogenomics |
Targeted Testing |
DPYD |
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Early Onset or Syndromic Epilepsy Gene Panel
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R59 |
Neurology |
Large Panel |
Infantile Epilepsy Syndromes |
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Endocrinology - FMR1 related premature ovarian failure
|
R402.2 |
Specialist Rare Disease |
STR testing |
FMR1 STR |
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Endometrial Cancer
|
M215.5 |
Pathology |
DNA NGS Panel |
POLE, (TP53 optional) |
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Endometrial Cancer
|
M215.2 |
Oncology |
Pyrosequencing |
MLH1 promoter hypermethylation |
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Familial Melanoma
|
R254 |
Cancer Genetics |
DNA NGS panel |
CDKN2A, CDK4 and BAP1 |
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Fanconi Anemia (FA)
|
R251.8 |
Haematology |
Cytogenetics |
DNA repair defects in the FA genes |
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Fetal Anomaly Gene Panel (FAGP)
|
R21 |
Prenatal |
Whole Exome Sequencing |
Fetal Anomalies Disorders |
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Fragile X (A) syndrome
|
R53 |
Developmental Delay |
STR testing |
FMR1 STR |
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Fragile X Tremor / Ataxia syndrome
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Neurology |
STR Testing |
FMR1 STR |
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Gastrointestinal Stromal Tumours (GIST) RNA
|
M8.2 |
Oncology |
RNA Panel |
NTRK1, NTRK2, NTRK3 |
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Gastrointestinal Stromal Tumours, GIST (DNA)
|
M8.1 |
Oncology |
DNA Panel |
KIT, PDGFRA |
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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 |
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Glioma (FISH)
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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 |
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GLIOMA (MGMT promoter hypermethylation)
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M27.6, M29.3, M31.1, M191.17, M192.17, M193.17 |
Pathology |
Targeted Mutation Testing |
MGMT |
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Glioma (RNA)
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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 |
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Haemato-oncology Genetic Analysis
|
M80.3, M82.2, M83.1 |
Haematology |
Karyotype or equivalent |
Detection of Complex karyotype, Monosomal karyotype and structural rearrangements |
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Haemochromatosis (HFE)
|
R95 |
Haematology |
Targeted mutation testing |
HFE common variants |
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Hearing - Non-syndromic Sensorineural Hearing Loss (DFNB1)
|
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Specialist Rare Disease |
Single gene sequencing and CNV analysis |
GJB2 sequencing and GJB6 deletions |
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Hereditary Breast/Ovarian Cancer
|
R208 |
Cancer Genetics |
DNA NGS Panel |
BRCA1, BRCA2, PALB2, PTEN, STK11, TP53 |
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Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
|
R77 |
Neurology |
MLPA or equivalent |
PMP22 |
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Huntington Disease (HD)
|
R68 |
Neurology |
STR testing |
HTT STR |
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Immunology - Primary Immunodeficiency Disease [PID] Panel
|
|
Specialist Rare Disease |
Large Panel |
Primary Immunodeficiency Disorders |
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Intellectual Disability Service
|
R29 |
Core Rare Disease |
Whole Exome Sequencing, Whole Genome Sequencing |
Intellectual Disability Related Disorders |
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Legius Syndrome (NFLS, Neurofibromatosis Type 1-like Syndrome)
|
R236 |
Cancer Genetics |
Single gene sequencing, MLPA |
SPRED1 |
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