Human Gene Carrier Screening Test

In this test, we will investigate the transmission probability of more than 180 genetic diseases from parents to children. If parents are carrying defective pathogenic genes, risk of developing genetic diseases in their children will increase. Twenty four percent of the world’s population are carrier to at least one genetic disease. Genetic diseases are rare but since thousands of them exist, probability of developing one is not small. It will be easier to control and treat genetic disorders and diseases by diagnosing them early.

  • How is the test done?

Blood samples will be taken from couples and with high-tech DNA sequencing devices, genetic data will be studied so that genes involved in certain diseases can be detected. Genetic counselors and other physicians could use the result of this test to help couples make sound decision for pregnancy, as well as in controlling and treating their children’s diseases.

  • When is the best time to do this test?

It has been recommended to do this test before marriage, before pregnancy or even during pregnancy (preferably during the first 3 months of pregnancy).

  • What is the difference between Human Gene Carrier Screening Test and NIPT test (Non Invasive Prenatal Test)?

NIPT test is performed at the 10th week of pregnancy and while identifying the sex and blood type of the fetus, it may indicate a common chromosomal abnormality such as Trisomy 21 or Down syndrome.

Human Gene Carrier Screening Test could be done at any time before giving birth, and it will indicate the probability of more than 180 genetic disorders.

  • Which genetic diseases are being detected with this test?

This test can detect more than 2800 molecular mutations and identify the possibility of transmission of more than 180 genetic diseases and disorders, such as:

  • Cystic Fibrosis
  • Tay-Sachs-Disease
  • Bloom’s syndrome
  • Stargardt
  • Muscular Dystrophy
  • Familial Mediterranean fever
  • Nonsyndromic Hearing loss and deafness
  • Alpha 1- Antitrypsin
  • Smith-Lemli-Optiz Syndrome
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