Genetic Disorder

Prenatal testing and early screening for rare hereditary diseases

We offer a wide range of genome sequencing
to help people lead healthier and happier lives.

The Clinical Diagnostics Division helps individuals lead healthy lives throughout their lifespan through prenatal and rare disease tests for fetuses.
From disease prevention to personalized treatment, we provide various genome sequencing tests.

 

 

NIPS: Non-Invasive Prenatal Screening

NIPS is the test that screens for aneuploidy of chromosomes in a fetus using its cffDNA (cell-free fetal DNA). The test is performed for Down syndrome,
Edwards syndrome and Patau syndrome, the most typical kinds of aneuploidy, and aneuploidy of gender chromosomes.

 

※ This test has not established the clinical meaning of the test results, and there is still insufficient objective validity that the resulting health-related actions are useful.

 

 

Rare Disease Genome

There are more than 8,000 known rare diseases. Among them, 80% are hereditary diseases caused by gene mutation. Even though the prevalence rate of each
disease is very low, the risk is rather high around the world because there are so many types and symptoms of these diseases.

 

 

https://www.macrogen.com/en/business/diagnosis/newborn

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