ULTRAGEN - DIAGNOSIS OF GENERAL DISEASE

Genetic diseases are difficult to treat with extremely expensive costs, sufferers almost have to live with the disease for the rest of their lives. Genetic diseases can be diagnosed based on a person's physical characteristics and family history or on the results of a screening test. Genetic testing is one of the tools that doctors use to diagnose genetic diseases.

Some common genetic diseases such as Thalassemia, Muscular Atrophy, Duchenne muscular atrophy... have their own genetic testing tools available. However, many other genetic diseases do not have a corresponding test, either because the cause is unknown or a test has not been developed. In these cases, diagnostic testing of genetic diseases by coding genome sequencing, related to the most well-defined disease to date, is an effective, economical but still guaranteeing method. high diagnosis rate.

Pregnancy/fetus/patient has clear, non-specific clinical symptoms, especially for the following disease groups:

• Have a family history of genetic diseases
• There are clinical manifestations of multi-organ damage, multiple malformations, complex, malformed
• Have atypical clinical manifestations
• Have disease-specific clinical symptoms, but the results of single gene or gene group analysis are negative
• The need for pre-marital genetic disease screening testing, newborn screening when there is a family history of the disease

UltraGen is a test that examines mutations in 4,503 genes associated with approximately 6,000 single-gene diseases, unexplained clinical symptoms/syndromes/disease groups of multiple organ systems to help determine the cause. sick.

1. Survey scope:

- All known pathogenic genes (4 503 genes)

- Chromosomal aneuploidy and all microdeletions, and segment duplications greater than 400kb

2. Sample usage:

2 - 3ml whole blood (collected in EDTA tube)

Transport with gel ice, store at 2-8°C up to 5 days, store longer at -20°C

3. Methods used: Whole genome sequencing (CES)

This is an established method for genetic diagnosis focusing on a set of disease-causing genes best identified to date on the coding region of 4,503 genes, allowing increased sensitivity and specificity of analysis

Compared to other genetic testing methods, CES can provide earlier diagnoses, reduce testing costs, and increase diagnostic productivity. Thereby simplifying the process of analyzing results for patients

4. Time to return results: 17 days

1. Conducted CES study on 70 patients with complex clinical symptoms and multiple lesions

=> CES technology has helped diagnose single-gene disorders, which is a powerful tool to determine the cause of disease in patients with complex/mixed phenotypes.

2. Research conducted CES on more than 2,200 households in Saudi Arabia, results:

Large-scale CES has enhanced the understanding of human variants associated with complex diseases/syndromes.

- Increase the chances of clear disease prevention

- Improve the current rate of diagnosis of rare genetic diseases

3. Study to evaluate the effectiveness of the CES method for the diagnosis of genetic diseases in newborns.

CES was performed on 36 infants and is considered to have an important role in identifying suspected genetic conditions due to lesions on multiple organs sick.

The first unit in Vietnam to have a synchronous laboratory system in Hanoi and Ho Chi Minh City

Meet international standards ISO 9001:2015, ISO 15189:2012

There are more than 30 sample collection points across the country, ensuring to provide customers with convenient, fast and accurate services.

Pioneering the application of leading advanced genetic analysis technologies in the world such as the United States, Europe, and Korea.