Carrier screening is one type of genetic testing process to identify whether a person carries the mutant gene from parents causing a specific disease. However, carrying one type of mutant gene does not mean that the person will have the disease but has the chance to pass on the mutant variant to children. The carrier screening process is a simple testing procedure, and it takes the blood, saliva, or tissue from the cheek to do further analysis. 

Who should do carrier screening?

Generally doctors recommend carrier screening to couples who are planning on getting a baby. This test is prescribed regardless of any particular community, ethnicity, or family history. The prior testing helps the couples to determine the future planning and take preventive measures. Based on the result of carrier screening, a couple can take an informed decision on pregnancy and may choose to do IVF because it reduces the chances of inheriting the harmful variant of DNA from both the parents. 

Autosomal recessive disorder

If a person inherits a harmful variant of a gene from both parents, who are the carriers, then he may have autosomal recessive conditions. It says that if both the parents are carriers of a certain genetic disease, then there is a 25% possibility that the child will have the same genetic condition. 

Choose carrier screening panel

The three gene panels are widely common for carrier screening: cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. The expanded panel considers more than 400 conditions, including the mentioned three conditions. The expanded panel carrier screening assesses the possibility of thalassemia, Duchenne muscular dystrophy, renal tubular acidosis, and many more. 

The expanded testing gives more detailed information on genetic diseases that have the possibility to be inherited by the children from the parents. This expanded screening is applicable for large ethnic communities that may have the significant effect of genetically inherited disease in children.

Carrier screening is essential for a couple planning to have children. Get the test results from the advanced technology-driven diagnosis and testing lab of Medgenome and make informed decisions in family planning. It provides the comprehensive screening test for genetic disorders of more than 2000 mutant genes. The implementation of next-generation sequencing (NGS) and multiplex ligation probe amplification (MLPA) confirms the most accurate and reliable carrier screening results. Moreover, carrier screening follows simple, non-invasive procedures, and there is no risk associated with the steps. 

Frequently Asked Questions

Q1. When can I expect the results of the carrier screening test?

You will receive the report after sample collection within a few days or, at most, a week. 

Q2. How to prepare for a carrier screening test?

You may need to stop eating and drinking immediately before the carrier screening test. Then, no other precaution is required to follow. 

Q3. How is the carrier screening test done?

A carrier screening test takes a sample of blood, saliva, or tissue to assess the presence of any genetic disorder. 

Q4. Is there any risk associated with carrier screening tests?

No. There is no risk in carrier screening tests. You may feel minor soreness, nothing else, after the test.