Rare Disease Genetic Test

Check of rare disease diagnostic testing

Diagnostic testing for patients across all rare genetic diseases, including cystic fibrosis, Fabry disease, Epilepsy, Hemophilia, all types of hereditary cancers, etc.

One test to cover all genes

Decoding all genes
Currently, 25~57.5% of rare disease patients receive diagnoses with WES based tests (Wright CF et al, 2018, Monies D et al, 2019 , Trujillano D et al, 2017 , Stark Z et al, 2016). More than half of the rare disease patients fail to get diagnosed with genetic testing.

Interpretation problem
From each patient, more than 100,000 genetic variants can be identified. Each of the variants needs to be interpreted for its association with the patient’s symptoms.

Each variant is interpreted by standard interpretation guidelines, such as ACMG guidelines (Richards S et al, 2015). ACMG guideline is composed of 28 rules, which means each variant needs to be interpreted in each of 28 different rules with different perspective and data. It takes an average of 90 minutes to interpret a variant by a trained medical geneticist..

AI for interpretation
We developed an automated variant interpretation system, called EVIDENCE, to interpret 100,000 variants identified in each patient according to the ACMG guideline.
EVIDENCE has several advantages compared to
human experts as below.

– Consistent and unbiased interpretation
– Minimize interpretation cost
– Improved interpretation by up-to-date data
integration

One symptom, many potential diseases
Why do we decode whole genes? Genetic mutations in different genes can cause common symptoms. For example, if a patient has symptoms related to the nervous system, 3,394 diseases with different genetic origins could be the cause.

This is why all 3,394 diseases need to be tested for the diagnosis.

To test all rare genetic diseases and maximize diagnostic yield, we decode all genes.

Advanced interpretation, improved diagnistic yield.

7,000+ Rare diseases

20,000+ Genes

within 6 diseases

7,000+ Rare diseases

20,000+ Genes

Within 6 Diseases

Continuous diagnosis by reanalysis

Not all patients receive diagnosis initially
Currently, 25~57.5% of rare disease patients receive diagnoses with WES based tests (Wright CF et al, 2018, Monies D et al, 2019 , Trujillano D et al, 2017 , Stark Z et al, 2016). More than half of the rare disease patients fail to get diagnosed with genetic testing.

Reanalysis increases diagnostic rate
About 10% of patients who fail to get diagnosed at the initial trial receive a diagnosis with regular reanalysis (Machini K et al, 2019, Costain G et al, 2018). This is why we conduct regular reanalysis to maximize the diagnostic rate.

Free reanalysis until diagnosed
EVIDENCE, our fully automated interpretation system,
makes monthly reanalysis possible. It reduces the
time and cost to interpret a patient’s genome on
newly discovered rare diseases to a fraction.

DNAGO provides a free reanalysis service for patients
who fail to receive diagnosis at the initial trial until
diagnosed.

Rare Disease Genetic Test

Diagnostic testing for patients across all rare genetic diseases, including Cystic fibrosis, Fabry disease, Epilepsy, Hemophilia, all types of hereditary cancers, etc.

View detail

Rare Disease Genetic Test

Diagnostic testing for patients across all rare genetic diseases, including Cystic fibrosis, Fabry disease, Epilepsy, Hemophilia, all types of hereditary cancers, etc.

View detail


Prepare Your Healthy Life

Genetic
Rare Disease
test kit

Predicts your tendency towards Rare diseases based on genetic information and get a solution to manage your lifestyle.

  • Direct blood collection for accuracy
  • Duplication test for high reliability
  • Only one case can be added to the shopping cart to enter the store owner information.