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Tests: A

Test codes, sample requirements and turnaround times for our most requested tests.

Please use the search box below to filter this list

Test name
1-3-Beta D Glucan
1p36 Deletion Syndrome – karyotype + FISH
16s bacterial sequencing
17-Hydroxyprogesterone (17-OHP)
18s fungal sequencing
21-Hydroxylase Deficiency (Congenital Adrenal Hyperplasia)
22q11 & 10p14 deletion (Di George Syndrome) – BOBs (5 days) + karyotype (15 days)
22q11 & 10p14 deletion (Di George Syndrome) – BOBs only
25-Hydroxyvitamin D
Acetylcholine Receptor Antibodies
AChR Cluster
Achromatopsia NGS Panel – full gene sequencing
Acinetobacter screen (one swab per site)
Actin Antibodies
Activated Protein C Resistance
Active B12
Acute Leukaemia Screen + MRD
ADA (Adenosine deaminase) (Nucleotide Metabolism)
ADAMTS – 13 Activity Assay
Adenovirus by PCR
Adenovirus DNA Quantitation by PCR
Adrenal Cortex Antibodies
Adulimimab Antibodies
Afibrinogenemia, congenital
Aicardi-Goutières Syndrome NGS Panel – full gene sequencing
Alagille Syndrome NGS Panel – full sequencing JAG1 + NOTCH2 genes
Albumin-adjusted Calcium (calculated)
ALK (immunohistochemistry)
ALK (Fish)
Alkaline Phosphatase (ALP)
Alkaline Phosphatase Isoenzymes
ALL Genome profile
Alpha-1 Antitrypsin Genotype – PI*M, PI*S, PI*Z
Alpha-1 Antitrypsin Phenotyping
Alpha 1 Antitrypsin
Alpha-2-plasmin inhibitor deficiency
Alpha 3 Ganglionic Antibodies
Alpha Feto Protein (AFP)
Alpha Fetoprotein on Amniotic fluid
Alpha Thalassaemia – multiplex PCR and HBA MLPA for large deletions
Alpha Thalassaemia – multiplex PCR for common large deletions
Alphavirus Investigations
Alport Syndrome NGS Panel – full sequencing with deletions and duplications
AML Genome profile
AmnioBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes
Amniocentesis culture (karyotype) only
Amniocentesis – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Amniocentesis – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
AmnioPCR only – rapid common aneuploidy diagnosis by QF-PCR
AMPA 1 and 2 Antibodies
Amylotrophic Lateral Sclerosis (Motor Neurone Disease) NGS Panel – full gene sequencing
Anaemia Profile
ANCA (Anti-Neutrophil Cytoplasmic Antibodies)
Androgen Insensitivity – AR gene sequencing
Aneurysm/Connective Tissue Disorders/Ehlers-Danlos Syndrome NGS Panel – full gene sequencing
Angelman Syndrome (Primary Screen) – methylation PCR
Angelman/Rett Syndromes NGS Panel – full gene sequencing
Aniridia, Isolated – PAX6 gene sequencing + deletions/duplications
Anophthalmia/Microphthalmia/Coloboma NGS Panel – full gene sequencing
Antenatal Profile
Anti-mitochondrial Antibodies (M2)
Anti-Nuclear Antibodies 
Anti-Thyroglobulin Antibodies
Anticoagulation monitoring
Antifungal susceptibility testing
Antifungal TDM
Antimullerian Hormone (AMH)
Antithrombin Ill
Aortopathy/Marfan Syndrome and Thoracic Aortic and Dissection NGS Panel – full gene sequencing
AP50 (Alternative Pathway)
Apert Syndrome – common FGFR2 mutations
Apolipoprotein A1
Apolipoprotein B
Apolipoprotein E genotype – E2, E3, E4
Apoptosis Assay
Aquaporin 4 Antibodies (Neuromyelitis Optica)
Arbovirus Antibodies/Abs
Array CGH (Comparative Genomic Hybridisation)
Ascitic fluid
Ashkenazi Breast Cancer Screen – common variants
Ashkenazi Jewish Carrier Screen
Aspergillus Fumigatus Precipitins
Aspergillus PCR (Sputum/BAL)
Ataxia NGS Panel – full gene sequencing
Atypical Antibody Screen (handwritten tube label)
Atypical mycobacterial culture (tissues)
Atypical PCR
Autoantibody Profile I
Autoantibody Profile II
Autoinflammation/Periodic Fever NGS Panel – full gene sequencing
Avian Precipitins (11 Species)
Azoospermia – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions