Lab Test Catalogue

1,25-Dihydroxyvitamin D

17 Alpha-OH Progesterone

22q11 Deletion Syndrome: 22q11 Deletion/Duplication Analysis

25-Hydroxyvitamin D

ABL1 Kinase Domain Mutation

Acanthamoeba

Acetaminophen

Activated Partial Thromboplastin Time

Activated Protein C Resistance

Acute Myeloid Leukemia Whole Genome Analysis

ADAMTS-13 Activity

Adenovirus - detection

Adenovirus - genotyping

AFB, Acid fast bacilli - detection - Bone Marrow

AFB, Acid fast bacilli – Eye/Ear

Alanine Aminotransferase

Albumin

Albumin, 24h Urine

Albumin, Random Urine

Alkali Denaturation Test

Alkaline Phosphatase, Bone Isoenzyme

Alkaline Phosphatase, Total

Alpha-2 Antiplasmin

Ammonia

Amphetamines Screen, Random Urine

Amylase, Total

Amyloidosis Sequencing (APOA1, APOA2, B2M, FGA, GSN, LYZ, TTR)

Anaplasma (Anaplasma phagocytophilum) - serology

Anaplastic Large Cell Lymphoma FISH: ALK

Angelman Syndrome: Methylation and Deletion/Duplication Analysis

Angelman Syndrome: UPD15 Analysis

Angiotensin Converting Enzyme

Anion Gap

Antibody Investigation

Antibody Titre for Prenatal Testing

Anti-IgA Testing

Anti-Mullerian Hormone

Anti-Phospholipid Syndrome Panel

Anti-SARS-CoV-2 Antibodies

Anti-streptolysin O - serology

Antithrombin III

Antithrombin III Antigen

Apolipoprotein B

ARG1 - Arginase Deficiency

Arthropods

Ashkenazi Jewish Cancer Panel

Ashkenazi Jewish Panel

Aspartate Aminotransferase

Autoinflammatory Disease: Deletion/Duplication Analysis

Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) NGS Panel

Autoinflammatory Disease: Recurrent Fever Syndrome (RFS) NGS Panel

Autopsy - Adult

Autopsy - Perinatal Any Gestational Age Liveborn, or Stillbirth Greater than 20 Weeks Gestation or Stillbirth Greater than 500 g

Autopsy - Perinatal Stillborn Less Than 20 weeks and Less Than 500 g

Avian influenza

AXIN2-related Attenuated Familial Adenomatous Polyposis

Babesia

Bacillus anthracis (Please notify laboratory if suspected)

Bacteria - Culture & Sensitivities – Aspirate/Tissue/Biopsies/Sterile Fluids/Drainages/Devices

Bacteria - Culture & Sensitivities – Blood

Bacteria - Culture & Sensitivities – Eye/Ear

Bacteria - Culture & Sensitivities – Respiratory (Lower)

Bacteria - Culture & Sensitivities – Respiratory (Upper)

Bacteria - Culture & Sensitivities – Stool

Bacteria - Culture & Sensitivities – Urine

Bacteria - detection (16S PCR)

Bacterial – Culture & Sensitivities - Genitals

Bacterial culture & sensitivities - CSF

Bacterial Culture & Susceptibility – Bone Marrow

Bacterial cultures & sensitivities – Wounds

Bacterial vaginosis and vaginitis screen

BAP1 Tumour Predisposition Syndrome

Barbiturates Screen, Random Urine

Bartonella henselae

B-Cell Clonality

BCR/ABL1 FISH Genetic Testing

BCR/ABL1 t(9;22) Genetic Testing

Becker Muscular Dystrophy: DMD Deletion/Duplication Analysis

Becker Muscular Dystrophy: DMD Sequence Analysis

Beckwith-Wiedemann Syndrome: CDKN1C Sequence analysis

Beckwith-Wiedemann Syndrome: IC1 and IC2 Methylation and 11p15 Deletion/Duplication Analysis

Beckwith-Wiedemann Syndrome: UPD11 Analysis

Benzodiazepines Screen, Random Urine

Beta-2 Glycoprotein Antibodies, IgG

Beta-2 Glycoprotein Antibodies, IgM

Beta-Hydroxybutyrate

Betke Kleihauer Test

Bicarbonate

Bile Acids, Total

Bilirubin, Direct

Bilirubin, Indirect

Bilirubin, Total

Birt-Hogg-Dube Syndrome

BK Polyoma virus - detection

Bladder/Urothelial Cancer Panel

Bladder/Urothelial Tumour Biomarker Test, MLH1, MSH2, MSH6, PMS2

Blastomyces (Please notify laboratory if suspected)

Blood Film and Peripheral Smear

Blood Gas, Arterial

Blood Gas, Capillary

Blood Gas, Fetal Blood

Blood Gas, Mixed Venous

Blood Gas, Umbilical Cord

Blood Gas, Venous

Blood Group & Antibody Screen

Blood Group Genotyping

Body Fluid Cell Count

Bone Marrow Biopsy and Aspiration

Bone Marrow for Cancer Cytogenetics

Bone Marrow Transplantation: Post-transplant Monitoring

Bone Marrow/Stem Cell Transplant Monitoring: 15 STRs and Amelogenin XY Loci

Bordetella spp - Detection

Borrelia - detection

Borrelia - serology

BRAF (p.V600E/K Only)

Breast Cancer Panel

Breast Tumour Biomarkers, ER

Breast Tumour Biomarkers, ER, PR , HER2

Breast Tumour Biomarkers, Ki-67

Breast Tumour Biomarkers, PD-L1

Bronchoalveolar Lavage CD3/4/8

Bronchoalveolar Lavage Cell Count

Brucella - detection (Please notify laboratory if suspected)

Burkholderia mallei and pseudomallei (Please notify laboratory if suspected)

Burkitt Lymphoma FISH: MYC Only

Caffey Disease: COL1A1 Recurrent Mutation Analysis

Calcium, 24h Urine

Calcium, Ionized, Extraporeal Circuit Blood

Calcium, Ionized, Serum

Calcium, Random Urine

Calcium, Total

California serogroup viruses – Serology and PCR

Cannabinoids Screen, Random Urine

Carbapenemase enzyme - detection

Carbohydrate Antigen 125

Carcinoembryonic Antigen

Cardiolipin Antibodies, IgG

Cardiolipin Antibodies, IgM

Carney Complex

CBFB::MYH11 Inv(16) or t(16;16)

Cell Free Fetal DNA for HPA 1 and 5

Cell Free Fetal DNA for RhD, C, E, c and K

Centromere B Antibodies

Cerebrospinal Fluid Cell Count

Cervix Tumour Biomarker Test, HPV

Cervix Tumour Biomarker Test, PD-L1

CFTR Deletion/Duplication Analysis

CFTR Recurrent Mutation Analysis

CFTR Sanger Sequence Analysis

Charcot Marie Tooth, HNPP - Comprehensive (87)

Charge Syndrome: CHD7 Deletion/Duplication Analysis

Charge Syndrome: CHD7 Sequence Analysis

Cherubism: SH3BP2 Recurrent Mutation Analysis

Cherubism: SH3BP2 Sequence Analysis

Chikungunya virus (Please notify laboratory if suspected)

Chlamydia pneumoniae/Mycoplasma pneumoniae

Chlamydia psittaci (Please notify laboratory if suspected)

Chlamydia trachomatis - Culture

Chlamydia trachomatis & Neisseria gonorrhoeae – detection (including LGV genotyping)

Chloride

Chloride, 24h Urine

Chloride, Random Urine

Cholangiocarcinoma Panel

Chronic Lymphocytic Leukemia: CLL FISH Panel

Chronic Myelogenous Leukemia: BCR/ABL1 FISH

Citrate, 24h Urine

Citrate, Random Urine

CJD, Creutzfeldt-Jakob Disease (Please notify laboratory if suspected)

CLL/SLL - IGHV Somatic Hypermutation/TP53

CLN2-TPP1 - Batten Disease

CLN3 - Batten Disease

Clostridioides (Clostridium) difficile

CMV, cytomegalovirus - detection

CMV, cytomegalovirus - drug resistance genotyping

CMV, cytomegalovirus - serology

Coagulation Screen

Cocaine Screen, Random Urine

Coccidiodes (Please notify laboratory if suspected)

Cold Agglutinin Screen

Cold Agglutinin Titre and Thermal Amplitude

Colorectal Cancer Panel

Colorectal Tumour Biomarker Test, MLH1, MSH2, MSH6, PMS2

Complement Component 3

Complement Component 4

Complete Blood Count With Differential

Congenital Hypertrophy of the Retinal Pigmented Epithelium, Cribiform-Morular Variant Thyroid, Desmoid

Congenital Hypertrophy of the Retinal Pigmented Epithelium, Cribiform-Morular Variant Thyroid, Desmoid with MUTYH

Congenital Muscular Dystrophies Sequence Analysis Panel: FKTN (FCMD), FKRP, POMGnT1, POMT1, POMT2

Connective Tissue Disease Screen

Connective Tissue Disease: Bone Involvement NGS Panel

Connective Tissue Disease: Deletion/Duplication Analysis

Connective Tissue Disease: Ehlers Danlos Syndrome NGS Panel

Connective Tissue Disease: Osteogenesis Imperfecta NGS Panel

Connective Tissue Disease: Osteopetrosis and Disorders of Increased Bone Density NGS Panel

Constitutional Microarray

Cord Blood for Blood Group & RhD

Cord Direct Antiglobulin Test and Indirect Antiglobulin Test

Cortisol

Corynebacterium diphtheriae

COVID-19 virus (SARS-CoV-2) – detection

COVID-19 virus (SARS-CoV-2) – serology

Coxiella (Q fever) - serology

C-Peptide

Craniosynostosis: Apert Syndrome (FGFR2 Recurrent Mutations Analysis)

Craniosynostosis: Crouzon Syndrome (FGFR2, FGFR3 Recurrent Mutation Analysis)

Craniosynostosis: Non-Syndromic Craniosynostosis (FGFR3 Recurrent Mutation Analysis)

Craniosynostosis: Pfeiffer Syndrome (FGFR1, FGFR2, FGFR3 Recurrent Mutation Analysis)

Craniosynostosis: Saethre-Chotzen Syndrome (TWIST1 Sequence Analysis and FGFR3 Recurrent Mutation Analysis)

Craniosynostosis: TWIST1 Deletion/Duplication Analysis

C-Reactive Protein

Creatine Kinase, Total

Creatinine

Creatinine Clearance

Creatinine, 24h Urine

Creatinine, Random Urine

Crossmatch of Packed Red Blood Cells, No Antibody present

Crossmatch of Packed Red Cells, Antibody Present

Cryofibrinogen

Cryoglobulin

Cryptococcus (Please notify laboratory if suspected)

Cryptosporidium

C-Telopeptide

CTNS - Cystinosis

Custom Hereditary Cancer Gene Sequencing

Cyclic Citrullinated Peptide Antibodies

Cysticercosis

Dalteparin

Danaparoid

D-Dimer

Deamidated Gliadin Peptide Antibodies, IgA

Deamidated Gliadin Peptide Antibodies, IgG

Dehydroepiandrosterone Sulfate

Dengue virus

Dermatophytic fungi

DICER-associated Syndrome

Direct Antiglobulin Test

Direct Oral Anticoagulants

Donath Lansteiner Test

Dopamine Beta-Hydroxylase Deficiency: DBH Sequence Analysis

Double-Stranded DNA Antibodies

Duchenne Muscular Dystrophy: DMD Deletion/Duplication Analysis

Duchenne Muscular Dystrophy: DMD mRNA Analysis

Duchenne Muscular Dystrophy: DMD Sequence Analysis

Dysplastic Nevus Syndrome

Eastern equine encephalitis virus

Ehrlichia chaffeensis

Endometrial Cancer Panel

Endometrium Tumour Biomarker Test, HER2

Endometrium Tumour Biomarker Test, MLH1, MSH2, MSH6, PMS2

Endometrium Tumour Biomarker Test, p53, ER, PR

Enoxaparin

Enterovirus

Eosinophilia Panel

Eosinophils in Urine

Epstein-Barr Virus (EBV) - detection

Epstein-Barr Virus (EBV) - serology

Erythrasma

Erythrocyte Sedimentation Rate

Estimated Glomerular Filtration Rate

Estradiol

Ethanol

Euglobulin Clot Lysis

Fabry Disease: GLA Deletion/Duplication Analysis

Fabry Disease: GLA mRNA Analysis

Fabry Disease: GLA Sequence Analysis

Factor II

Factor IX

Factor V

Factor VII

Factor VIII

Factor X

Factor XI

Factor XII

Factor XIII

Familial Gastrointestinal Stromal Tumour (7 gene panel)

Familial Isolated Pituitary Adenoma

Familial Melanoma (7 gene panel)

Familial Renal Cancer (15 gene panel)

Fecal Calprotectin

Ferritin

Fetal Aneuploid Testing, Perinatal

Fetal Aneuploid Testing, Prenatal

Fetal Hemoglobin

Fetal Maternal Hemorrhage Testing

Fetal/Neonatal Alloimmune Thrombocytopenia

Fibrinogen

FLT3 only

FLT3/NPM1

Follicle Stimulating Hormone

Follicular Lymphoma/DLBCL FISH: BCL6

Follicular Lymphoma/DLBCL FISH: IGH/BCL2 t(14;18)(q32;q21)

Fragile X E Syndrome: AFF2 Trinucleotide Repeat Analysis

Fragile X Syndrome: FMR1 Trinucleotide Repeat Analysis

Francisella tularensis

Free Androgen Index

Frozen Section Consultation

Fungal culture - Aspirate/Tissue/Biopsies/Sterile Fluids/Drainage/Devices

Fungal culture - Blood

Fungal culture - Bone Marrow

Fungal culture - CSF

Fungal culture – Eye/Ear

Fungal culture - Respiratory

Fungal culture - Urine

Fungal culture - Wounds

Fungal serology

Fungi - detection (ITS PCR)

Galactomannan (Aspergillus) - detection

Galactosemia

Gamma Glutamyltransferase

Gamma Polymerase Deficiency

Gastroenteritis viruses

Gastrointestinal Stromal Tumour Panel

Genome Wide Sequencing

Giardia lamblia

GJB2 (CX26) / GJB6 (CX30) - Recessive Deafness

Glomerular Basement Membrane Antibodies

Glucose

Glucose Challenge Test, 50 g

Glucose Tolerance Test, 75 g

Glucose-6-Phosphate Dehydrogenase Assay

Glucose-6-Phosphate Dehydrogenase Deficiency

Gram stain (STAT)

Group B Streptococcus - culture

Haemophilus ducreyi

Hantavirus (Please notify laboratory if suspected)

Haptoglobin

Head & Neck Cancer Panel

Head and Neck Tumour Biomarker Test, EBER

Head and Neck Tumour Biomarker Test, HPV

Head and Neck Tumour Biomarker Test, PD-L1

Head and Neck Tumour Biomarker Test, SMARCA4, SMARCB1

Hearing Loss: Non-Syndromic, Autosomal Recessive: GJB2 Sequence Analysis

Hearing Loss: Non-Syndromic, Autosomal Recessive: GJB6 Deletion/Duplication Analysis

Hearing Loss: Pendred Syndrome: SLC26A4 Deletion/Duplication Analysis

Hearing Loss: Pendred Syndrome: SLC26A4 Sequence Analysis

Heel Blood Group for Neonates

Heinz Body Preparation

Helicobacter pylori - culture

Helicobacter pylori – Serology

Hemoglobin A1c

Hemoglobin Electrophoresis

Hemoglobin Genotype

Hemoglobinopathy: Hemoglobin Variant

Hemoglobinopathy: Sickle Cell Disease

Hemoglobinopathy: Thalassemia

Hemophilia A and B Genotype

Heparin Induced Thrombocytopenia

Hepatitis A – serology

Hepatitis B – serology

Hepatitis B virus – genotyping

Hepatitis B virus – resistance genotyping

Hepatitis B virus – viral load

Hepatitis C – serology

Hepatitis C virus – drug resistance genotyping

Hepatitis C virus – genotyping

Hepatitis C virus – viral load

Hepatitis D – serology

Hepatitis E – serology

Hepatobilliary (including Gallbladder) Tumour Biomarker Test, MLH1, MSH2, MSH6, PMS2

HER2 Fluorescence in Situ Hybridization (Breast)

HER2 Fluorescence in Situ Hybridization (Colorectal)

HER2 Fluorescence in Situ Hybridization (Endometrium)

HER2 Fluorescence in Situ Hybridization (Stomach/Esophagus)

Hereditary Breast/ Ovarian/ Prostate Cancer (19 gene panel)

Hereditary Breast/Ovarian/Prostate/ Gastrointestinal Cancer (36 gene panel)

Hereditary Breast/Ovarian/Prostate/ Melanoma Cancer (24 gene panel)

Hereditary Cancer Testing, Full panel (76 genes)

Hereditary Central Nervous System Tumour (20 gene panel)

Hereditary Endometrial Cancer (10 gene panel)

Hereditary Gastric Cancer (17 gene panel)

Hereditary Gastrointestinal Cancer (Lynch Syndrome, Gastric, Pancreas, Polyposis, 31 gene panel)

Hereditary Hearing Loss: Alport Syndrome, Norrie Syndrome, Treacher Collins Syndrome, Waardenburg Syndrome NGS Panel

Hereditary Hearing Loss: Common and Non-syndromic Hearing Loss NGS Panel

Hereditary Hearing Loss: Deletion/Duplication Analysis

Hereditary Hearing Loss: Stickler Syndrome NGS Panel

Hereditary Hearing Loss: Usher Syndrome NGS Panel

Hereditary Hemorrhagic Telangiectasia: ACVRL1 and ENG Deletion/Duplication Analysis

Hereditary Hemorrhagic Telangiectasia: ACVRL1 Sequence Analysis

Hereditary Hemorrhagic Telangiectasia: ENG Sequence Analysis

Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequence analysis

Hereditary Hyperparathyroidism

Hereditary Leiomyomatosis and Renal Cell Cancer

Hereditary Lung Cancer

Hereditary Pancreatic Cancer (Adenocarcinoma, 12 gene panel)

Hereditary Pheochromocytoma and Paraganglioma (12 gene panel)

Hereditary Polyposis (21 gene panel)

Hereditary Soft Tissue Tumour (12 gene panel)

Hereditary Spastic Paraplegia: Autosomal Dominant HSP NGS Panel

Hereditary Spastic Paraplegia: Autosomal Recessive HSP NGS Panel

Hereditary Spastic Paraplegia: Deletion/Duplication Analysis

Hereditary Spastic Paraplegia: X-Linked HSP NGS Panel

Hereditary Spherocytosis Screening

Hereditary Thoracic Aortic Aneurysms & Aortic Dissections: Arterial Tortuosity Syndrome (SLC2A10)

Hereditary Thoracic Aortic Aneurysms & Aortic Dissections: Family Variant Specific Test

Hereditary Thoracic Aortic Aneurysms & Aortic Dissections: Loeys-Dietz Syndrome Panel (7 genes)

Hereditary Thoracic Aortic Aneurysms & Aortic Dissections: Marfan Syndrome (FBN1)

Hereditary Thoracic Aortic Aneurysms & Aortic Dissections: Single Gene Testing

Hereditary Thoracic Aortic Aneurysms & Aortic Dissections: Thoracic Aortic Aneurysms and Aortic Dissection Panel (19 genes)

Herpes B virus

Herpes simplex viruses - serology

Herpes simplex viruses & Varicella-zoster virus - detection

HHV-6 – detection

Histoplasma (Please notify laboratory if suspected)

HIV, human immunodeficiency virus - detection

HIV, human immunodeficiency virus – genotyping, drug resistance, tropism and HLA-B*57:01 Abacavir testing

HIV, human immunodeficiency virus - serology

HIV, human immunodeficiency virus - viral load

HPV, human papillomavirus - detection

HPV, human papillomavirus - genotyping

HTLV- I/II, human T-cell lymphotropic virus - detection

HTLV- I/II, human T-cell lymphotropic virus - serology

Human Chorionic Gonadotropin

Human Leucocyte Antigen Typing, Non-Transplant

Human Leukocyte Antigen Typing & Antibody

Hunter Disease: IDS Deletion/Duplication Analysis

Hunter Disease: IDS mRNA Analysis

Hunter Disease: IDS Sequence Analysis

Hyperferritinaemia Cataract Syndrome

Identity Testing (15 STRs and Amelogenin XY Loci): Specimen Matching

Identity Testing: Maternal Cell Contamination Studies

Identity Testing: Zygosity Studies

Immunodeficiency Panel

Immunofixation Electrophoresis, 24h Urine

Immunofixation Electrophoresis, Random Urine

Immunofixation Electrophoresis, Serum

Immunofluorescence

Immunoglobulin A

Immunoglobulin G

Immunoglobulin M

Immunohistochemistry

Indirect Antiglobulin Test

Infection control screen - Candida auris

Infection control screen – detection of Carbapenemase Producing Organisms (CPO)

Infection control screen – detection of Extended spectrum β-lactamase (ESBL)

Infection control screen – detection of Methicillin-resistant Staphylococcus aureus (MRSA)

Infection control screen – detection of Resistant Gram-negative bacilli

Infection control screen – detection Vancomycin resistant enterococci (VRE)

Infection control screen - genotyping

Infectious mononucleosis heterophile antibody

Influenza virus – susceptibility testing (genotyping)

Influenza virus A, B and RSV – detection

Inhibitor Assay (Bethesda Units)

In-Situ Hybridization

Insulin

Insulin-Like Growth Factor 1

Intralipid

Intraoperative Consultation

Iron

Iron Panel

JAK2 (Exon12+Exon14p.V617F) / CALR Mutations

Japanese Encephalitis B virus

JC virus - detection

Jo1 Antibodies

Kidney Biopsy

Klebsiella pneumoniae (hypervirulence) - detection

Lactate

Lactate Dehydrogenase, Total

Lamellar Body Count

Large B-Cell Lymphoma Panel FISH: Reflex Panel

Legionella

Leishmania

Leptospira - serology

Li-Fraumeni Syndrome

Lipid Profile

Lithium

Lupus Anticoagulant

Luteinizing Hormone

Lymphocytic Choriomeningitis – Serology and PCR

Lymphoma Protocol

Lynch Syndrome (5 gene panel)

Lysosomal Storage Disorders (50)

Magnesium

Magnesium, 24h Urine

Magnesium, Random Urine

Malaria

Malaria (Plasmodium)

Malignant Hematology Comprehensive Sequencing (NGS) Panel

MALT Lymphoma FISH: MALT1

Mantle Cell Lymphoma (TP53 Sequencing Only)

Mantle Cell Lymphoma FISH: CCND1/IGH t(11;14)(q13;q32)

Measles - detection

Measles - genotyping

Measles – serology

MECP2 - RETT Syndrome

Medium Chain Acyl-Coenzyme Deficiency

Melanoma Panel

MEN1 Syndrome

Metachromatic Leukodystrophy

Methadone Screen, Random Urine

Microarray, Perinatal samples

Microarray, Prenatal samples

Middle Eastern Respiratory Syndrome coronavirus (MERS-CoV)

Mitochondrial Genome and Depletion/Integrity Panel (56)

MLH1 Promoter Methylation

Moiz Test Sept 11

Molar Pregnancy

Molluscum contagiosum virus

Monkeypox virus

Mononucleosis

Multiple Endocrine Neoplasia Type 2

Multiple Myeloma Panel (or Amyloidosis) FISH

Mumps – serology

Mumps virus - detection

Mumps virus - genotyping

Muscle Biopsy for Enzyme Investigation - Adult

Muscle Biopsy for Enzyme Investigation - Perinatal

Mycobacteria (non-tuberculosis) – drug resistance testing

Mycobacterium – detection – Blood

Mycobacterium – detection – Corneal scrapings

Mycobacterium – Detection – CSF, Fluids, Bone or Tissue

Mycobacterium – detection – Faeces

Mycobacterium – detection – Gastric lavage

Mycobacterium – detection – Respiratory

Mycobacterium – detection – Superficial abscess, lesion, wound or aspirate

Mycobacterium – detection – Urine

Mycobacterium – MTBC and Rifampin/Isoniazid Resistance PCR

Mycobacterium tuberculosis (TB) – drug resistance testing

Mycobacterium tuberculosis (TB) - genotyping

Mycoplasma genitalium - PCR

Mycoplasma/ureaplasma

MYD88

Myeloperoxidase Antibodies

Neurofibromatosis Type 1 / Legius Syndrome: SPRED1 Deletion/Duplication Analysis

Neurofibromatosis Type 1 / Legius Syndrome: SPRED1 Sequence Analysis

Neurofibromatosis Type 1: NF1 Sequence Analysis

Neuronal Ceroid Lipofuscinoses (Batten Disease): PPT1 (CLN1), TPP1 (CLN2) and CLN3 Recurrent Mutation Analysis

Neuronal Ceroid Lipofuscinoses (Batten Disease): Sequence Analysis Panel: PPT1(CLN1), TPP1 (CLN2), CLN3, CLN5, CLN6, CLN7, CLN8, CLN10

Nevoid Basal Cell Carcinoma Syndrome/ Gorlin Syndrome

Nijmegen Breakage Syndrome

Nocardia

Non-Syndromic Cardiomyopathies: ARVC Panel (7 genes)

Non-Syndromic Cardiomyopathies: Family Variant Specific Test

Non-Syndromic Cardiomyopathies: Pan Cardiomyopathy Panel (30 genes)

Non-Syndromic Cardiomyopathies: Single Gene Testing

Non-Syndromic Hypertrophic Cardiomyopathy: Family Variant Specific Test

Noonan Syndrome and RASopathies: Deletion/Duplication Analysis for SPRED1 Only

Noonan Syndrome and RASopathies: Noonan Syndrome and RASopathies Panel

NOTCH3 - CADASIL

NPC (NPC1/NPC2) - Niemann-Pick Disease

NPM1 MRD

N-Terminal Pro B-Type Natriuretic Peptide

NTRK Directed Therapy Panel

NTRK Fusion Confirmation Panel

Occult Blood, Feces

Ocular Tumour Biomarker Test, MLH1, MSH2, MSH6, PMS2

Opiates Screen, Random Urine

Osmolality

Osmolality, 24h Urine

Osmolality, Random Urine

Osmolar Gap

OTC - Ornithine Transcarbamylase

Ova & Parasites – Bowel

Ova & Parasites – Stool

Ovarian BRCA Cancer Panel

Ovarian FOXL2 Cancer Panel

Ovarian FOXL2, DICER1 Cancer Panel

Ovarian SMARCA4 Cancer Panel

Ovary Tumour Biomarker Test, p53, WT1

Ovary Tumour Biomarker Test, MLH1, MSH2, MSH6, PMS2

Ovary Tumour Biomarker Test, SMARCA4

Oxalate, 24h, Urine

Oxalate, Random Urine

Pancreas Tumour Biomarker Test, MLH1, MSH2, MSH6, PMS2

Pan-TRK Tumour Biomarker Test, NTRK

Paracoccidioides (Please notify laboratory if suspected)

Paraganglioma Tumour Biomarker Test, SDHB

Parasites (other) – Anisakis

Parasites (other) – Ascaris

Parasites (other) – Balantidium coli

Parasites (other) – Baylisascaris – serology

Parasites (other) – Chlonorchis sinensis

Parasites (other) – Cyclospora

Parasites (other) – Cystoisospora belli

Parasites (other) – detection – Angiostrongylus

Parasites (other) – Dientamoeba fragilis

Parasites (other) – Diphyllobothrium species

Parasites (other) – Echinococcus

Parasites (other) – Entamoeba histolytica

Parasites (other) – Enterobius vermicularis

Parasites (other) – Fasciola

Parasites (other) – Filaria

Parasites (other) – Gnasthostoma

Parasites (other) – Heterophyes – Feces

Parasites (other) – Hookworm (Ancylostoma duodenals/ Necator americanus)

Parasites (other) – Hymenolepis

Parasites (other) – Maggots – Myiasis

Parasites (other) – Metorchis

Parasites (other) – Microsporidia

Parasites (other) – Onchocerca

Parasites (other) – Paragonimus

Parasites (other) – Sarcocystis

Parasites (other) – Schistosoma

Parasites (other) – Taenia

Parasites (other) – Toxocara – serology

Parasites (other) – Trichinella

Parasites (other) – Trypanosoma

Parathyroid Hormone, Intact

Parental Follow Up, Microarray

Paroxysmal Nocturnal Hemoglobinuria

Parvovirus B19

Pathology Consultation

Penile Tumour Biomarker Test, HPV

Peutz-Jeghers Syndrome

Phenotyping, Blood

Phenotyping, Non-Blood

Phenytoin, Total

Phosphate

Phosphate, 24h Urine

Phosphate, Random Urine

PKD1 Deletion/Duplication

PKD1 Sequencing

PKD2 Deletion/Duplication

PKD2 Sequencing

PKHD1 Deletion/Duplication

PKHD1 Sequencing

Placental Growth Factor

Plasminogen

Platelet Aggregation Studies

Platelet Alloimmune Refractoriness

Platelet Function Assay

Platelet Immunology Testing

PML::RARA t(15;17)

Pneumocystis jirovecii (PJP , formerly PCP) – detection

Poliovirus

Polycystic Kidney Disease, Targeted Variant Testing

Potassium

Potassium, 24h Urine

Potassium, Random Urine

Powassan virus (Please notify laboratory if suspected)

Poxvirus

Prader-Willi Syndrome: Methylation and Deletion/Duplication Analysis

Prader-Willi Syndrome: UPD15 Analysis

Progesterone

Prolactin

Prostate Cancer Panel

Prostate Specific Antigen, Free

Prostate Specific Antigen, Total

Prostate Tumour Biomarker Test, AR

Protein C Activity

Protein C Antigen

Protein Electrophoresis, 24h Urine

Protein Electrophoresis, Random Urine

Protein Electrophoresis, Serum

Protein S Activity

Protein, Total

Protein, Total, 24h Urine

Protein, Total, Random Urine

Proteinase 3 Antibodies

Prothrombin Time

PT 1:1 Mix

PT/PTT (includes INR)

PTEN Hamartoma Tumour Syndrome

PTT 1:1 Mix

Pyruvate Kinase Deficiency

Pyruvate KinaseAssay

Q-fever – serology

QuantiFERON-TB (QFT)

Quebec Platelet Disorder Gene

Rabies - serology

Rare Bleeding Disorders Genotype : FV, FVII, FX, FXI, FXIII and others (eg Hypofibrinogenemia, etc)

Rare Polyposis Genes

Red Cell Phenotyping

Renal Diseases: Atypical Hemolytic Uremic Syndrome / Membranoproliferative Glomerulonephritis Sequence Analysis Panel

Renal Diseases: Focal Segmental Glomerulosclerosis: Sequence Analysis Panel

Reptilase Time

Respiratory pathogens (multiplex panel)

Respiratory viruses (multiplex panel)

Reticulocyte Count

Retinoblastoma

Rhabdoid Predisposition Syndrome

RhD Genotyping

Rheumatoid Factor

Ribonucleoprotein Antibodies

Rickettsia (Please notify laboratory if suspected)

Ro52 Antibodies

Ro60 Antibodies

Rubella – PCR

Rubella – serology

RUNX1::RUNX1T1 (AML/ETO) t(8;21)

Russell-Silver Syndrome: IC1 Methylation and 11p15 Deletion/Duplication Analysis

Russell-Silver Syndrome: UPD7 Analysis

Salicylate

SARS-CoV, Severe acute respiratory syndrome coronavirus - detection

Scabies

Schwannomatosis

Scl70 Antibodies

SCN4A - Paramyotonia Congenita

Serotonin Release Assay

Sessile Serrated Polyposis Cancer Syndrome

Sex Hormone Binding Globulin

Shwachman-Diamond Syndrome: SBDS Sequence Analysis

Sickle Cell Screen

Simpson-Golabi-Behmel Syndrome: GPC3 Sequence Analysis and GPC3 and GPC4 Deletion/Duplication Analysis

Sjögren's Syndrome Type B Antibodies

Skeletal Dysplasia: Achondroplasia (FGFR3 Recurrent Mutation Analysis)

Skeletal Dysplasia: Hypochondroplasia (FGFR3 Recurrent Mutation Analysis)

Skeletal Dysplasia: Thanatophoric Dysplasia (FGFR3 Recurrent Mutation Analysis)

Skin Tumour Biomarker Test, MLH1, MSH2, MSH6, PMS2

Small Bowel Cancer Panel

Small Bowel Tumour Biomarker Test, MLH1, MSH2, MSH6, PMS2

Smith Antigen Antibodies

Smith-Lemli-Opitz Syndrome

Sodium

Sodium, 24h Urine

Sodium, Random Urine

Soft Tissue & Bone Cancer Panel

Soft Tissue and Bone Biomarker Testing, IHC

Soft Tissue and Bone Biomarker Testing, Copy Number MDM2

Soft Tissue and Bone Biomarker Testing, Secondary Review

Soft Tissue and Bone: Gastrointestinal Stromal tumours (GIST) Biomarker Testing, SDHB

Soluble IL-2 Receptor Level

Special Stains

Spinal and Bulbar Muscular Atrophy: AR Trinucleotide Repeat Analysis

Spinal Muscular Atrophy: SMN1 and SMN2 Deletion/Duplication Analysis

Sporotrichosis / Sporothrix (Please notify laboratory if suspected)

SPTLC1 - Hereditary Sensory Neuropathy

St. Louis encephalitis virus

Stomach Tumour Biomarker Test, EBER

Stomach/Esophagus Tumour Biomarker Test, HER2, MLH1, MSH2, MSH6, PMS2, PD-L1

Strongyloides (Please notify laboratory if suspected)

Surgical Pathology

Synovial Fluid Cell Count and Crystal Analysis

Syphilis - detection

Syphillis - genotyping

Syphillis - serology

Tay Sachs Disease Carrier Test (Enzyme Analysis)

T-Cell Clonality

Testosterone, Total

Tetanus - serology

Thrombin Time

Thyroglobin

Thyroglobulin Antibodies

Thyroid Cancer Panel

Thyroid Peroxidase Antibodies

Thyroid Stimulating Hormone

Thyroxine, Free

Tick-born encephalitis virus – serology and PCR

Tinzaparin

Tissue Transglutaminase Antibodies, IgA

Tissue Transglutaminase Antibodies, IgG

Toxoplasma – Microscopy and PCR

Toxoplasma - serology

TPMT Phenotyping

Transferrin

Transfusion Reaction Investigation

Transfusion Related Acute Lung Injury Investigation

Trichomonas vaginalis

Tricyclic Antidepressants Screen, Random Urine

Triglycerides

Triiodothyronine, Free

Trismus Pseudocamptodactyly Syndrome: MYH8 Sequence Analysis

Trismus Pseudocamptodactyly Syndrome: X-Inactivation Analysis

Troponin T, High-Sensitivity

Tuberous Sclerosis

Unfractionated Heparin

Urate

Urate, 24h Urine

Urate, Random Urine

Urea

Urea Cycle Disorders Panel (13)

Urea, 24h Urine

Urea, Random Urine

Urinalysis, Macroscopic

Urinalysis, Microscopic

Uveal Melanoma Panel

Vaginal swab - sexual abuse/toxic shock/children

Valproic Acid

Vancomycin

Venezuelan equine encephalitis virus (Please notify laboratory if suspected)

Very Long Chain Acyl-Coenzyme Deficiency

Viral Hemorrhagic Fever (including Ebola virus)

Viruses – detection

Vitamin B12

von Hippel-Lindau Syndrome

von Willebrand Disease Investigation

von Willebrand Factor Activity and Antigen

von Willebrand Genotyping

von Willebrand Multimers

VZV, Varicella zoster virus – genotyping

VZV, Varicella zoster virus – serology

West Nile virus (WNV) – serology

Western equine encephalitis virus (Please notify laboratory if suspected)

Whipple’s disease – detection

Worm / Insect identification

Y- Chromosome Microdeletion

Yellow Fever virus (Please notify laboratory if suspected)

Yersinia pestis (Please notify laboratory if suspected)

Yersinia spp - Serology

Zika virus – PCR and serology