Autosomal Recessive Inherited Disorder

Humans have two chromosomes, one from the mother and one from the father.

A recessive genetic disorder is a condition that occurs when two chromosomes are abnormal at the same site. If one of the chromosomes of maternal or paternal origin is abnormal, but the other chromosome is not abnormal, this disorder does not occur. In such cases, the individual may be referred to as a carrier of the corresponding genetic disorder.

For example, if there is a rare disease that does not affect 10 000 people, its carrier is estimated to be one in 100 people.

This is because it is a

1 in 100 X 1 in 100 = 1 in 10,000

calculation.

If we examine 100 sites for one disorder in every 10,000 people, theoretically everyone could be a carrier of one disorder.

So what happens if our tests find abnormalities in the same genetic site in both parents?

The answer is

• One in four fetuses will develop the disease.
• One in two will be a carrier.
• One in four will be a normal individual.

How can it be detected?

The most accurate one at present is the amniotic fluid test.

If the test turns out positive, an amniotic fluid test can be performed at the Tokyo Clinical Laboratory, our affiliated laboratory.

The Recessive Genetic Disorders are the following diseases:

Recessive Genetic Disorders
Detected by HUMEDIT NIPT