Interpreting your result
A genetic diagnosis is a medical finding best understood with your doctor and a genetic counsellor, who can explain what it means for treatment and for your family.
Comprehensive Advanced DNA testing
GENETIC DIAGNOSIS
Genetic diagnosis testing helps find answers when symptoms suggest an inherited or unexplained medical condition. By analysing DNA, clinicians can confirm or rule out suspected diagnoses and make more informed care decisions.
These tests are especially valuable in complex or paediatric cases where a clear genetic explanation can change management, monitoring, and family counselling.
Typical turnaround time: 15–25 working days after sample collection.

When symptoms don't fit an obvious diagnosis, the answer is often written in a single gene. Genetic diagnosis testing, such as ExomeXtra and ExomeFocus, uses advanced exome sequencing to read the protein coding genes where most disease causing changes occur, helping to confirm or rule out a genetic cause.
This is often described as ending a 'diagnostic odyssey': the long, exhausting search for answers that many families with rare conditions experience.
The depth of testing can be tailored from a focused look at the most relevant genes to comprehensive exome analysis, and, where helpful, testing the patient alongside both parents to pinpoint the cause faster.
A genetic diagnosis is a medical finding best understood with your doctor and a genetic counsellor, who can explain what it means for treatment and for your family.
We provide a simple, 4-step process from order through clinically guided results.
Book a Test
01
Start with a consultation so we can confirm the right diagnostic panel for your symptoms and clinical history.
02
Provide a blood sample under clinical guidance for accurate laboratory analysis.
03
Your sample is analysed using comprehensive genetic methods designed to investigate inherited conditions.
04
Get a clear report with guidance on what the findings mean for diagnosis, management, and family implications.
Diagnostic testing goes beyond looking at a single gene when clinically appropriate. Broader panels can uncover genetic explanations that narrower tests may miss.
Our team works with your healthcare providers to ensure results support practical next steps — from treatment planning to family risk assessment.
