※ This product is for "one person."

◆About Gene Checker (Recessive Genetics)◆

This genetic carrier screening test (carrier test) is recommended for all couples planning to conceive.

This test examines whether the couple holds any genetic mutations that could be inherited by their child.

It is also highly regarded as a bridal check.

※ Products for multiple tests (for two people) are also available. ⇒ Click here for multiple tests

【Intended Recipients】

All couples can undergo this genetic carrier screening test, but it is especially recommended in the following cases:

● Those who want to know if there are any hereditary diseases that might be inherited by their child when planning a pregnancy.

● Patients preparing to undergo assisted reproductive treatment.

● When either or both partners are known to have genetic abnormalities.

● If there are people with genetic abnormalities in the family.

● Pregnant women (to check for risks to the fetus).

● Those considering another child (second, third, etc.).

● The children who are born.

【Gene Checker (Recessive Genetics)】

Gene Checker (Recessive Genetics) is a test that focuses on genetic changes in DNA.

Gene Checker (Recessive Genetics) is designed to determine if the genetic mutations present in the test taker may cause moderate to severe genetic diseases in their child. For most target diseases on the panel, the child’s risk requires both parents to carry the same mutation (autosomal recessive).

However, for some diseases, the child may develop the disease due to the mother's genetic mutation (X-linked).

Depending on the selected test option, Gene Checker (Recessive Genetics) will be conducted using appropriate techniques.
 

【About the Test】

This test extracts and analyzes genes from each partner’s cheek cells to detect serious genetic diseases in the fetus based on their combination.

【Testable Diseases and Associated Genes】

【About Gene Testing for Recessive Genetic Diseases】
A carrier screening test developed in 228 varieties by Medicover Genetics Ltd. The genomic DNA (gDNA) is extracted using a standardized method, mechanically fragmented before preparing the DNA library. DNA concentration of the target genome region is performed by solution-based hybridization, and sequencing is done by Next-Generation Sequencing (NGS). The read sequence data is referenced to the reference genome to identify mutations using a proprietary bioinformatics pipeline. Adventia can identify single nucleotide variants, small insertions, and deletions (≦30 bases), and copy number variations (CNV). Variants are classified following American College of Medical Genetics and Genomics guidelines. Classification and interpretation of variants are performed on the Varsome Clinical platform, based on information available at the time of the test. Only pathogenic and potentially pathogenic variants are reported; variants of unknown significance, benign, or likely benign variants are not reported. Genetic counseling is recommended for clinical interpretation and results.