top of page
microscope background.png

Clinical Genomics

OdysseyDx™

Rare Disease Solutions

A comprehensive genetic test aimed at diagnosing rare hereditary diseases.

Rare Disease Patient Stories

Ending Carson & Chase’s 6-Year Diagnostic Odyssey
Ending Carson & Chase’s 6-Year Diagnostic Odyssey
Carson was initially diagnosed with cerebral palsy, but his brother, Chase, proved that to be a misdiagnosis. It took four more years and whole-genome sequencing to definitively diagnosis Carson and Chase with Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN). Subscribe to the Illumina video channel http://www.youtube.com/subscription_center?add_user=IlluminaInc A global genomics leader, Illumina provides comprehensive next-generation sequencing solutions to the research, clinical, and applied markets. Illumina technology is responsible for generating more than 90% of the world’s sequencing data.* Through collaborative innovation, Illumina is fueling groundbreaking advancements in oncology, reproductive health, genetic disease, microbiology, agriculture, forensic science, and beyond. *Data calculations on file. Illumina, Inc., 2015. View customer spotlight videos https://www.youtube.com/playlist?list=PLKRu7cmBQlajfheLzgbI4S7xBn7IDbt79 View Illumina webinars https://www.youtube.com/playlist?list=PLKRu7cmBQlahpXlnrrXlQw9itVJ8yHwUZ View Illumina product videos https://www.youtube.com/playlist?list=PLKRu7cmBQlaj6YuZmkfxZcT9twqDgP2Xd View Illumina support videos https://www.youtube.com/playlist?list=PLKRu7cmBQlajbm2KGsICWb-JOnusJfYvM
Ending Donovan’s 6-Year Diagnostic Odyssey
Ending Donovan’s 6-Year Diagnostic Odyssey
The list of Donovan’s symptoms exceeds 20 conditions and involved nearly a dozen medical specialties. After 6 years, whole-genome sequencing was ordered and identified a variant in the SKI gene and led to a diagnosis of Shprintzen-Goldberg syndrome. Subscribe to the Illumina video channel http://www.youtube.com/subscription_center?add_user=IlluminaInc A global genomics leader, Illumina provides comprehensive next-generation sequencing solutions to the research, clinical, and applied markets. Illumina technology is responsible for generating more than 90% of the world’s sequencing data.* Through collaborative innovation, Illumina is fueling groundbreaking advancements in oncology, reproductive health, genetic disease, microbiology, agriculture, forensic science, and beyond. *Data calculations on file. Illumina, Inc., 2015. View customer spotlight videos https://www.youtube.com/playlist?list=PLKRu7cmBQlajfheLzgbI4S7xBn7IDbt79 View Illumina webinars https://www.youtube.com/playlist?list=PLKRu7cmBQlahpXlnrrXlQw9itVJ8yHwUZ View Illumina product videos https://www.youtube.com/playlist?list=PLKRu7cmBQlaj6YuZmkfxZcT9twqDgP2Xd View Illumina support videos https://www.youtube.com/playlist?list=PLKRu7cmBQlajbm2KGsICWb-JOnusJfYvM

Ending the Diagnostic Odyssey

OdysseyDx™ provides a comprehensive genetic testing solution for rare hereditary diseases, helping physicians move beyond guesswork to achieve accurate diagnoses faster. By uncovering the molecular cause, OdysseyDx™ empowers precision medicine, improves treatment decisions, and gives families the clarity and direction they’ve been searching for.

Image by Julia Koblitz

Breaking the Cycle of Uncertainty

For families affected by rare diseases, the diagnostic journey often stretches for years—filled with repeated hospital visits, inconclusive tests, and misdiagnoses. OdysseyDx™ accelerates this process with next-generation sequencing, offering the highest probability of pinpointing genetic causes. By resolving cases earlier, it reduces stress, financial strain, and delays in treatment.

  • Over 7,000 rare diseases identified, affecting 2–6% of the global population

  • Average diagnostic odyssey: 5–7 years, with up to 3 misdiagnoses along the way

    rages genomic sequencing to provide a faster, more accurate path to diagnosis

  • Early detection supports timely interventions, personalized treatments, and better long-term outcomes

From Diagnosis to Personalized Care

Identifying the genetic roots of a rare disease is more than just naming a condition—it’s the foundation for tailored treatment and better patient care. OdysseyDx™ delivers molecular-level insights that enable physicians to move from symptomatic management to targeted, evidence-based strategies, while also equipping families with actionable knowledge for future planning.

Doctor Consulting Patient

300
MILLION PEOPLE
WORLDWIDE
LIVING WITH
A RARE DISEASE

image (41).png

Advantages of Rare Disease Genomics

Rare diseases are often difficult to diagnose and manage because their symptoms overlap with common conditions. Genomic testing transforms this challenge by uncovering the root genetic causes, giving patients and families much-needed clarity. By connecting symptoms to their genetic origins, rare disease genomics empowers patients and families with knowledge that drives proactive health management and improves quality of life.

01

Tailored Disease Management

Comprehending the mechanisms of rare diseases enables physicians to direct patients to the right specialists, select personalized treatments, and provide condition-specific follow-up.

02

Reduced Expenses

By circumventing extended diagnostic journeys, genomic diagnoses for rare diseases can prevent expensive tests and procedures while minimizing unnecessary referrals.

03

Informed Family Planning

Determining the inheritance pattern of a rare disease offers insight into recurrence risks for patients and their families, facilitating knowledgeable family planning decisions.

04

Psychosocial Benefits

Beyond reducing stress linked to diagnostic odysseys, obtaining a molecular diagnosis connects affected families with rare disease support groups, fostering a sense of community.

Genomics for Families and Newborns

Comprehensive carrier screening, newborn health insights, and disease risk prediction to guide early intervention. Enable personalised care, informed family planning, and lifelong health management with advanced genomic testing.

bottom of page