Test Catalogue

Genomic Diagnostics Across Every Specialty

Life Readers coordinates molecular testing from our network of accredited partner laboratories. Browse our test catalogue below and contact us to discuss ordering.

Cancer

Oncology Genomics

Precision oncology depends on knowing the molecular driver of each tumour. Our network provides comprehensive somatic profiling panels used to guide targeted therapy selection, immunotherapy eligibility, and clinical trial enrolment.

Comprehensive Solid Tumour Panel

Multi-gene NGS panel covering 500+ cancer-associated genes. Identifies actionable SNVs, indels, CNVs, and gene fusions.

NGSSolid TumourActionable

Haematological Malignancy Panel

Targeted panel for leukaemia, lymphoma, and myeloma — covering somatic mutations, chromosomal rearrangements, and MRD monitoring.

HaematologyNGSMRD

MSI / TMB Assessment

Microsatellite instability and tumour mutational burden quantification — key biomarkers for immunotherapy eligibility.

ImmunotherapyBiomarker

BRCA1/2 Somatic Testing

Tumour-based BRCA1 and BRCA2 analysis for PARP inhibitor eligibility in ovarian, breast, and prostate cancers.

BRCAPARPTargeted

Drug Response

Pharmacogenomics

Pharmacogenomic testing identifies genetic variants that affect how patients metabolize and respond to medications — enabling safer prescribing, preventing adverse events, and optimizing dosing.

Core PGx Panel

Tests 12 key metabolizing enzymes (CYP2D6, CYP2C19, CYP2C9, TPMT, DPYD, and more) relevant to psychiatry, cardiology, oncology, and anaesthesiology.

CYP450Drug SafetyPsychiatry

Oncology PGx Panel

Focused on chemotherapy-related variants: DPYD (5-FU toxicity), UGT1A1 (irinotecan), and TPMT (thiopurines).

ChemotherapyToxicityOncology

Cardiovascular PGx

Warfarin dosing (VKORC1, CYP2C9), clopidogrel response (CYP2C19), and statin myopathy risk (SLCO1B1).

CardiologyAnticoagulation

Germline

Inherited Disease Testing

Germline genomic testing identifies inherited variants that predispose patients and their families to disease. Our panels are validated against African population variant databases where available.

Hereditary Cancer Panel

Germline analysis of 30+ genes associated with hereditary breast, ovarian, colorectal, and other cancer syndromes. Includes BRCA1/2, MLH1, MSH2, APC, and more.

Hereditary CancerGermlineFamily Risk

Cardiogenetics Panel

Variants underlying hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmias (long QT, Brugada), and channelopathies.

CardiologySudden DeathInherited

Carrier Screening

Population-level screening for autosomal recessive conditions: sickle cell disease, G6PD deficiency, thalassaemia, and cystic fibrosis.

CarrierSickle CellAfrica

Rare Disease

Rare Disease Diagnostics

Rare disease diagnosis often requires the deepest genomic interrogation. Our network provides specialist sequencing capabilities for patients with undiagnosed and rare conditions.

Whole Exome Sequencing (WES)

Sequencing of all ~22,000 protein-coding genes. The gold standard for diagnosing patients with suspected rare Mendelian disease.

WESRare DiseasePaediatric

Whole Genome Sequencing (WGS)

Comprehensive sequencing of the entire genome — including non-coding regions implicated in regulatory variants and structural rearrangements.

WGSComprehensiveResearch

Chromosomal Microarray

Detection of copy number variants (CNVs) and regions of homozygosity — key in paediatric intellectual disability, developmental delay, and dysmorphic features.

CMACNVPaediatrics

Non-Invasive

Liquid Biopsy

Liquid biopsy analyses circulating tumour DNA (ctDNA) in blood — enabling cancer detection, treatment monitoring, and minimal residual disease assessment without invasive tissue sampling.

Plasma ctDNA Panel

Multi-cancer early detection and treatment response monitoring using cell-free DNA sequencing from a standard blood draw.

ctDNABloodNon-Invasive

MRD Monitoring

Ultrasensitive detection of residual disease after treatment completion for haematological malignancies and solid tumours.

MRDRemissionMonitoring

Infection

Infectious Disease Genomics

Pathogen genomics is critical for AMR surveillance, outbreak investigation, and precision infection management — especially in Africa's high-burden infectious disease landscape.

TB Whole Genome Sequencing

Comprehensive drug resistance profiling of M. tuberculosis — far superior to conventional DST, covering all first- and second-line drugs.

TBAMRDrug Resistance

HIV Drug Resistance Genotyping

Sequencing of HIV reverse transcriptase, protease, and integrase genes to guide antiretroviral therapy.

HIVARTResistance

Metagenomics / Unknown Pathogen

Unbiased sequencing to identify and characterise unknown or unexpected pathogens in complex clinical samples.

MetagenomicsOutbreakUnknown Pathogen

Need a test not listed here?

Our network can source specialist genomic testing beyond our standard catalogue. Contact us to discuss your clinical needs.