Carrier Screening For inherited diseases

---

Anyone can carry certain mutations (genetic changes) in their body.  Some mutations may have no effect on our health and development, while others

can cause a genetic disease. The carrier screening genetic tests determine if an asymptomatic healthy-looking person is a carrier of a genetic disease or not. 

• Each individual harbors an average of 2.8 known severe recessive mutations 
• 20% to 30% of all infant deaths are due to genetic disorders
• 1 in 100 babies born with an inherited disease

The genetic insight provided by Genatechs can inform, guide and empower people on their reproductive choices and minimize the risk of people who are carriers transmitting genetic disease to their children.

Two major modes of inheritance of genetic disease are autosomal recessive and X-linked. Risk of disease transmission to children depends on the inheritance mode, gene carrier status of both parents, and gender of the baby.

When a couple is planning for a pregnancy, it is important that they know all they can about the health of their future family. With state-of-the-art technology, high detection rates, and an unparalleled service model, the Carrier Screening Test from Genatechs helps couples understand and plan better for their future.

Carrier Screening Test is recommended for all couples who are planning a pregnancy. But this test is strongly recommended in the following cases:

• Consanguineous marriage
• Either partner is affected by a hereditary disorder
• History of a genetic disorder in the family
• History of multiple pregnancy losses
• A couple from an ethnic group with a high carrier rate of certain genetic disorders
• Congenital anomalies detected in children

• Detect all known common and rare disease-causing mutations
• Reduce the incidence of disease with preconception carrier screening for pathogenic gene mutations and genetic counseling
• Use best in class accuracy and easily interpretable reporting
• Make informed decisions
• Cover 1300 unique conditions with three customized screening panels on NGS and MLPA
• Ensure higher accuracy and low residual risk, regardless of ethnicity
• Remove unnecessary testing
• Reduce the genetic disorder burden
• Genetic counseling to receive more information on the potential impact of the disease, and discuss their choices on how to minimize the risk of transmitting the disease to children
• In-vitro fertilization (IVF) and preimplantation genetic testing (PGT-M) to ensure the baby will not have the affected phenotype
• Choosing a compatible gamete donor without the same mutation
• Early intervention, therapies where available, and better clinical management for affected children
• Having prenatal diagnosis during pregnancy, if they wish to know whether their baby is affected or not