ABOUT
We uses next generation sequencing (NGS) technology to identify pathogenic variants that cause rare and common genetic disorders.
IDEAL PATIENT
Genetic testing can be considered for people at high risk for inherited disorders, which include a positive family history presence of certain symptoms, or early onset of disease. Genetic counseling should be considered.
RARE DISEASES
A disease is considered rare when it has a prevalence of less than 5 in 10,000 people¹. It is estimated that rare diseases affect more than 30 million people in the US and 300 – 400 million people worldwide². So while individually rare, they are collectively more common.
The Diagnostic Odyssey
Many rare diseases do not have diagnostic criteria, making it difficult for healthcare providers to “see” them. Patients often enter a diagnostic odyssey, going years, sometimes decades without a diagnosis.
- It takes an average of 4-5 years for a person with a rare disease to receive an accurate diagnosis.²
- The rate of misdiagnosis during the diagnostic odyssey can be as high as 40%.¹
Panels Offered
- Cancergenomics
- Eye Disorders
- Thyroid
- Diabetes
- Neurological Disorders
- Cardio Disorders
- Primary Immunodeficiencies
- Pulmonary Disorders