The Risk of Gene Variants or Abnormalities

A gene is composed of a group of deoxyribonucleic acid (DNA). Every gene has a complete piece of DNA and has its genetic blueprint. This sequence determines the genetic information of each gene and determines what the parents inherit from their children. Physical and psychological characteristics, such as the child’s height, memory, appearance, etc. If the sequence of the DNA that make up a gene is abnormal, the genetic information contained in it will cause genetic diseases due to errors.

Knowledge is Power. Early Intervention Saves Lives.

The early stages of life are the most crucial as they are foundation of a child’s future health and development. While physical disabilities such as visual impairments can be identified before the child turns three, developmental disorders such as autism are not well visible so they are more likely to be diagnosed after the age of three.

Researches have shown

The early detection may facilitate a faster access to intervention
which can significantly improve child’s condition.

Conditions caused by Genetic Mutations

diseaseSymptoms
AsthmaBreathing difficulty, wheezing and shortness of breath
ADHDInability to concentrate and Hyperactivity
Allergic rhinitisNose inflammation triggered by Allergens
Wilson diseaseLiver disease, central nervous system disorders or death
Atopic dermatitisEczema and itching
Hearing lossPartial or complete inability to Hear

Understand your Baby’s Gene for a Healthier Future

Newborn genetic screening can help to detect chromosomal abnormalities as well as the presence of risk factors early so that you are better equipped to address any potential problems to avoid the development of serious symptoms that may go undetected as the baby grows up.

Disclaimer and Test Limitation
bebegene® genetic screening is tested by Eone-Diagnomics Genome Centre (EDGC), a CLIA-certified clinical lab based in South Korea with leading-edge technology for genome analysis. EDGC has a quality management system in place to ensure maximum accuracy of screening results. The test is only highly accurate for chromosomal abnormalities of aneuploidies, deletions and duplications (>200kb). As with any screening tests, false positive or false negative results cannot be completely eliminated due to various reasons including but not limited to specimen quality and other variables. This is a genetic screening test related to the genetic predisposition developmental disorders. It cannot be considered as a diagnostic test. Hence, the risk of a disorder should never be precluded solely on the basis of screening. If pathogenic variants are detected, follow up testing is recommended to confirm the results. Signs or symptoms observed should be followed up immediately by a professional healthcare provider.

Reference
1) About Autism. To be confirmed.
2) About ADHD. Website. https://www.dhcas.gov.hk/tc/adhd.html. Accessed June 18, 2020.
3) Childhood asthmas are genetically related. Hong Kong Asthma Society website. https://www.hkasthma.org.hk/hk/press-releases/926. Accessed June 18, 2020.