22q11 del Velocardiofacial / Di George Syndrome |
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5-Hydroxyindoleacetic acid (5-HIAA, urine) |
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7α-Hydroxycholestenone |
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Achondroplasia / Hypochondroplasia |
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Activated Partial Thromboplastin Time (APTT) |
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Acute Leukaemia Panel |
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Alanine aminotransferase (ALT) |
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Albumin |
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Albumin (fluid) |
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Albumin (urine) |
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Albumin:creatinine ratio (ACR, 'microalbumin', urine) |
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Alcohol / Ethanol |
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Alkaline phosphatase (ALP) |
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Alkaline phosphatase isoenzymes |
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Alpha 1 antitrypsin Genotyping |
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Alpha-1 antitrypsin level and phenotype |
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Alport syndrome gene sequencing (COL4A3, COL4A4, COL4A5) |
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Amikacin |
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Amino acids |
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Amino acids (urine) |
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Ammonia |
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Amylase |
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Amylase (fluid) |
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Amylase (urine) |
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Angiotensin-converting enzyme (ACE) |
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Anti-tissue transglutaminase IgA and IgG (anti-tTG) |
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Antibody Investigation |
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Antithrombin deficiency full genetic screen (SERPINC1) |
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APTT Ratio (Activated Partial Thromboplastin Time Ratio) |
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Asialotransferrin (CSF) |
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Aspartate aminotransferase (AST) |
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AST:ALT Ratio |
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Basophil Count |
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BCR::ABL1 t(9;22)(q34;q11) Diagnostic (for suspected CML) |
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BCR::ABL1 t(9;22)(q34;q11) E1A2, E13A2 & E14A2 transcripts Diagnostic Acute Leukaemia |
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BCR::ABL1 Tyrosine Kinase Domain Mutation Detection |
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Bence-Jones Protein (BJP, urine) |
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Bernard Soulier Full Mutation (GP1BA, GP1BB & GP9) |
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Bernard Soulier screen for the detection of familial mutations |
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Bilirubin, total |
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Biotinidase |
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Blast Cells |
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Blood Film Examination |
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Blood Gases (H+, pCO2, pO2, bicarbonate, Base Excess, Lactate |
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Bone Marrow Aspirate |
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Breast fine needle aspirate |
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Breast Lymph nodes |
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Breast Resection |
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C-peptide |
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C-reactive protein (CRP) |
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CA125 |
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Calcium |
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Calcium (fluid) |
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Calcium (ionised) |
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Calcium (urine) |
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Calculated free testosterone (male) |
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Calprotectin (faeces) |
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Carbamazepine (Tegretol) |
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Carboxyhaemoglobin |
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Carcinoembryonic antigen (CEA) |
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CBFB::MYH11 inv(16) / t(16;16) Diagnostic (AML) |
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CD19 Count |
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CD4/CD8 Counts |
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Cerebrospinal fluid Routine C & S at WGH |
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Chloride |
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Chloride (fluid) |
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Chloride (urine) |
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Cholesterol |
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Cholesterol (fluid) |
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CO2, total (bicarbonate) |
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Coagulation Screen |
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Coeliac screen |
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Cortisol |
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Creatine kinase, total (CK) |
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Creatinine |
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Creatinine (fluid) |
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Creatinine (urine) |
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Creatinine Clearance |
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Crossmatch |
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Cryoglobulin |
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CSF Cell Count and Differential |
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CSF Cytospin |
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CSF Xanthochromia |
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Cystic Fibrosis |
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D-Dimer |
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DAT (Direct Antiglobulin Test) |
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Dentatorubral-pallidolusian atrophy (DRPLA) |
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Dexamethasone suppression test, overnight |
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Digoxin |
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Dilated cardiomyopathy (Titin gene sequencing) |
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Disaccharidases |
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Dominant Cerebellar Ataxia |
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Elastase (faeces) |
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Eosinophil Count |
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Erythrocyte Sedimentation Rate (ESR) |
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Estimated glomerular filtration rate (eGFR) |
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ETV6::RUNX1 t(12;21)(p13;q22) Diagnostic (ALL) |
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F10 full genetic screen for FX deficiency |
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F10 screen for detection of familial mutation (FX deficiency) |
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F11 full genetic screen for FXI deficiency |
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F11 screen for detection of familial mutation (FXI deficiency) |
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F13A1 and F13B full genetic screening for FXIII deficiency |
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F13A1 or F13B screen for detection of familial mutation (FXIII deficiency) |
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F5 full genetic screen for FV deficiency |
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F5 screen for detection of familial mutation (FV deficiency) |
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F7 full genetic screen for FVII deficiency |
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F7 screen for detection of familial mutation (FVII deficiency) |
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Ferritin |
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Fibrinogen (Clauss) |
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Fibrinogen full genetic screen for hypo/dis/afibrinogenaemia |
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Fibrinogen screen for detection of familial mutation (hypo/dis/afibrinogenaemia) |
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FIP1L1::PDGFRA fusion gene |
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First trimester combined antenatal screening test for Down's Syndrome |
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FLT3 |
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Folate (serum) |
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Fragile X Syndrome |
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Free androgen index (FAI) |
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Friedreichs ataxia |
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FSH (follicle stimulating hormone) |
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Full Blood Count (FBC) |
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Full Genetic Screening of the Protein S Gene (PROS1) |
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Galactose-1-phosphate uridyltransferase (Gal-1-PUT) |
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Gentamicin |
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Glucose |
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Glucose (CSF) |
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Glucose (fluid) |
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Glucose tolerance test |
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Glycine (CSF) |
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GP1BA Full Mutation for Platelet-type Von Willebrand Disease |
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GP1BA screen for detection of familial mutation (Platelet-type Von Willebrand Disease) |
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Group and Save |
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Haematocrit (HCT) |
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Haemoglobin (Hb) |
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Haemolytic Screen |
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Haemophilia A carrier testing |
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Haemophilia A or B prenatal diagnosis - contact lab for advice |
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Haemophilia B carrier testing |
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Haemophilia B full genetic screen |
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Haemorrhoids |
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HbA1c |
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HDL-cholesterol |
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Hereditary Haemorrhagic Telangiectasia |
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Hereditary Non-Polyposis Colorectal Cancer / Lynch Syndrome |
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Homocysteine |
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Human chorionic gonadotrophin (hCG) |
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Huntington Disease |
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Hypertrophic / Dilated Cardiomyopathy |
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Hypertrophic Cardiomyopathy (extended panel) |
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Immunoglobulin Gene Clonality |
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Immunoglobulin HV Gene Sequencing |
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Immunoglobulin IgA |
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Immunoglobulin IgG |
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Immunoglobulin IgM |
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Immunoglobulins (IgA, IgG, IgM) |
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Immunophenotyping |
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Infectious Mononucleosis (IM) Screen. |
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INR (International Normalised Ratio) |
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Insulin |
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Iron |
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ITGA2B and ITGB3 full genetic screening for Glanzmann thrombaesthenia |
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ITGA2B or ITGB3 screen for detection of familial mutation (Glanzmann thrombaesthenia) |
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Kidney Specimen - malignant |
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KIT D816V Mutation Testing |
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KMT2A (MLL, 11q23) rearrangement Diagnostic test for Acute Leukaemia |
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Lactate |
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Lactate (CSF) |
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Lactate dehydrogenase (LDH, fluid) |
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Lactate dehydrogenease (LDH) |
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LDL-cholesterol |
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Lipid Profile |
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Lithium |
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LMAN1 and MCFD2 full genetic screen for combined factor V and VIII deficiency |
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LMAN1 or MCFD2 screen for detection of familial mutation (Combined FV and FVIII deficiency) |
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Lower GI Surgical Specimens large e.g. large bowel, colonectomy |
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Luteinising hormone (LH) |
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Lymph Nodes ? Lymphoma |
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Lymphocyte Count |
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Lymphocyte Subsets |
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Lymphoid Panel |
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Lysosomal enzymes |
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Magnesium |
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Magnesium (faeces) |
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Magnesium (fluid) |
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Magnesium (urine) |
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Malarial Ag Test |
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Malarial Parasite Screen |
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Mean Cell Haemoglobin (MCH) |
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Mean Cell Haemoglobin Concentration (MCHC) |
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Mean Cell Volume (MCV) |
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Metabolic screen |
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Metadrenaline (urine) |
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Metamyelocytes |
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Methaemoglobin |
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Methotrexate |
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Monocyte Count |
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MRD monitoring BCR::ABL1 E13A2 and/or E14A2 transcripts |
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MRD monitoring BCR::ABL1 E1A2 transcript |
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MRD monitoring CBFB::MYH11 |
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MRD monitoring ETV6::RUNX1 |
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MRD Monitoring NPM1 |
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MRD monitoring PML::RARA |
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MRD monitoring RUNX1::RUNXT1 |
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MRD monitoring TCF3::PBX1 |
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Mucopolysaccharide investigations |
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Mucopolysaccharides (urine) |
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Muscle biopsy |
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MYD88 p.L265P Mutation testing |
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Myelocytes |
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MYH9 gene screen for inherited macrothrombocytopenia |
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MYH9 screen for detection of familial mutation (Macrothrombocytopenia) |
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Myotonic Dystrophy |
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Nerve biopsy |
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Neutrophil Count |
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Next Generation Sequencing (NGS) for Myeloid Disorders |
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Normetadrenaline (urine) |
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NPM1 |
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Nucleated Red Blood Cells |
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Oestradiol |
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Oligoclonal bands (CSF) |
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Organic acids (urine) |
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Ornithine Transcarbamylase Deficiency (OTC) |
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Osmolality |
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Osmolality (fluid) |
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Osmolality (urine) |
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Osmotic gap (faeces) |
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Oxalate (urine) |
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Paracetamol |
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Penile biopsy, Foreskin, testicular biopsy |
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pH (fluid) |
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Phenylalanine |
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Phenytoin |
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Phosphate |
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Phosphate (urine) |
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Phosphate, renal tubular reabsorption (TmP/GFR) |
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Platelet count |
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PML::RARA t(15;17)(q22;q21) Diagnostic (AML) |
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PNH Screen |
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POLE mutation analysis |
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Porphobilinogen (urine) |
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Porphyrins (total, urine) |
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Potassium |
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Potassium (fluid) |
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Potassium (urine) |
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Prenatal Karyotype and/or FISH and/or Array (CVS) |
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Progesterone |
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Prolactin |
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Promyelocytes |
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Prostate specific antigen (PSA) |
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Protein (urine) |
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Protein C deficiency full genetic screen (PROC) |
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Protein C deficiency screen for detection of familial mutation (PROC) |
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Protein electrophoresis |
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Protein S Gene Screen for Detection of Familial Mutation (PROS1) |
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Protein, total |
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Protein, total (CSF) |
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Protein, total (fluid) |
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Protein:creatinine ratio (PCR, urine) |
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Prothrombin Time (PT) |
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RAS / MAPK pathway developmental syndromes |
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Red Cell Count |
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Reticulocyte Count |
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RUNX1::RUNX1T1 t(8:21)(q22;q22) Diagnostic (AML) |
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Serum Haptoglobin |
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Sex hormone binding globulin (SHBG) |
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Short synacthen test (SST) |
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Skin -Wide resection |
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Skin biopsy |
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Skin IF sample |
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Sodium |
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Sodium (fluid) |
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Sodium (urine) |
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Spinal Muscular Atrophy |
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Spleen |
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Stargardt disease (ABCA4 gene sequencing) |
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Sweat Test |
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TCF3::PBX1 t(1;19)(q23;p13) Diagnostic (ALL) |
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TCR Gene Clonality |
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Testosterone |
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Theophylline |
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Thyroid investigations (TFTs) |
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Thyroid stimulating hormone (TSH) |
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Thyroxine, free (free T4, FT4) |
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Tobramycin |
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Total Carbon Dioxide |
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TP53 |
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Transferrin |
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Transferrin Saturation |
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Transfusion Reaction Investigation |
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Tri-iodothyronine, total (total T3) |
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Triglycerides |
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Triglycerides (fluid) |
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Troponin T (high sensitivity) |
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Urate |
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Urate (fluid) |
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Urate (urine) |
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Urea |
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Urea (fluid) |
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Urea (urine) |
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Urinary Haemosiderin |
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Urine stone screen |
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Valproate |
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Vancomycin |
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Vitamin B12 |
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Vitamin D |
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VTE Exclusion |
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VWF full genetic screen for VWD |
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VWF screen for detection of familial mutation |
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White Cell Count |
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XLSBMA / Kennedy disease |
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α-Fetoprotein (AFP) |
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α-Fetoprotein (AFP, fluid) |
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γ-glutamyl transferase (GGT) |
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