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Carrier Screening of Monogenic Inherited Diseases (20 diseases, CSKA)

Detection of 20 single-gene inherited diseases to avoid the birth with single-gene recessive inherited diseases.

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Why Carrier Screening of Monogenic Inherited Diseases (20 diseases, CSKA)?

About recessive genetic diseases

Recessive genetic disease refers to a genetic disorder that need 2 non-working copies on the same locus. People who have only 1 recessive gene is called "carrier" for the trait or disease, thus they don’t have any health problems.

About recessive genetic diseases

Two carriers have a 25% chance of having an affected child with two recessive genes.

High portability

On average, each normal person carries 2.8 pathogenic variants of recessive genetic diseases

High risk

About 2% of families have a high risk of having children with recessive genetic diseases

Highly pathogenic, disabling, lethal

Most of the patients have serious symptoms and are difficult to cure, which brings great pain and heavy burden to the family

Easily overlooked

80% of patients with recessive genetic diseases do not have any family history

For Who

1 Couples with abnormal chromosomes

2 Normal couples who are preparing for pregnancy, especially couples of intermarriages

3 Couples with abnormal reproductive history

4 Couples who have a child inheriting a monogenetic disease or have familial genetic diseases

5 Sperm/egg donors

6 Women who are concerned about recessive inherited diseases during pregnancy (gestational week <16)

Service Process