Carrier Screening

Family Planning to empower patients with the essential knowledge

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Test Introduction

CarrierGene is a genetic testing to identify carrier couples and individuals at risk for passing autosomal and x-linked genetic disorders on to their children. These genetic disorders can include physical disabilities, cognitive impairment, and other severe health problems. The American College of Medical Genetics and Genomics (ACMG) have published guidelines on expanded carrier screening and its importance in reproductive care.

CarrierGene Focus: is a pan-ethnic screening panel of 118 genes known to be curated to South East Asia population carrier frequencies. As recommeded by ACMG, all pregnant individuals and those considering pregnancy are to be offered Tier 3 carrier screening.

CarrierGene Enhanced: An extended panel that analyzes for genes known to cause autosomal recessive (AR) disorders and X-linked conditions. This panel covers over 700 autosomal recessive, including all 113 ACMG tier 3 genes and many additional conditions that may have severe presentations.

Preconception Individual
(Female or Male)

Individuals may be considered for carrier screening based on a family history of a genetic condition.

Couple (Simultaneously)

Both partners may be screened at the same time for results.

Couple (Sequentially)

The test can be performed simultaneously. If the female partner is found to be a carrier, the male partner undergoes the testing as well.

CarrierGene panel tailored to Asian population

  • Duchenne Muscular Dystrophy (DMD) related Dystrophinopathy
  • Spinal Muscular Atrophy (SMA)
  • Fragile X Syndrome
  • Cystic Fibrosis and other CFTR-related disorders
  • Wilson Disease
  • Alpha-thalassemia
  • Beta-thalassemia

Medical treatment has to be individualised and can only be rendered after adequate assessment of your condition through appropriate clinical examination, and after discussion with your doctor. You should not rely on the information provided herein. Please note that the contents of this page are provided on the understanding that no surgical or medical advice or recommendation is being rendered.

How it Works

Patient Story

A Patient’s Journey: CarrierGene Screening Test

Mark and Sarah had always dreamt of starting a family, but both carried a history of genetic disorders. Mark had a sibling affected by a rare condition, while Sarah’s family had experienced hereditary challenges as well. As they began their family planning journey, they faced overwhelming anxiety about the potential risks for their future children. Their doctor recommended CarrierGene screening, a non-invasive test that could provide insights early in pregnancy. Thanks to CarrierGene, Mark and Sarah received reassurance and were able to make informed decisions, offering them hope and peace of mind as they prepared for their new chapter.

Other Information

Importance of Screening for Conditions that are treatable Screening Test

Carrier screening for treatable genetic conditions plays a crucial role in reproductive health and family planning for several reasons:

1. Early Intervention and Treatment: Identifying carrier status for treatable conditions allows individuals and couples to make informed decisions about their reproductive options. If both partners are carriers for the same condition, they can explore early intervention and treatment options to manage the condition in their child if it is born with the disease.

2. Preventing Severe Disease: For some treatable genetic conditions, early diagnosis and intervention can significantly reduce the severity of the disease or prevent it altogether. This can improve the quality of life for affected individuals and reduce the burden of chronic illness.

3. Reproductive Decision-Making: Carrier screening assists individuals and couples with essential information for reproductive decision-making, guiding choices that reflect their values and preferences. This encompasses options like prenatal testing, in vitro fertilization (IVF) with preimplantation genetic testing, and adoption. In addition, it guides family planning by assisting couples in determining whether to have biological children, pursue adoption, or employ reproductive technologies to reduce the risk of passing on a genetic condition to their child.

4. Psychological and Emotional Support: Carrier screening also allows individuals and couples to prepare emotionally and psychologically for the possibility of having a child with a genetic condition. This can reduce the stress and uncertainty associated with unexpected diagnoses after birth.

5. Awareness and Education: Carrier screening raises awareness about genetic conditions and the importance of genetics in healthcare. It encourages individuals and healthcare providers to be proactive in addressing potential genetic risks.

6. Community Health: Widespread carrier screening programs can have a positive impact on community health by reducing the prevalence of certain genetic diseases within a population. This is particularly important for conditions that disproportionately affect specific ethnic or racial groups.

7. Economic Benefits: Early intervention and treatment for genetic conditions can lead to cost savings in healthcare. Treating conditions at an earlier stage can be more effective and less costly than treating advanced stages of disease.

8. Research and Development: Data from carrier screening programs can contribute to ongoing research and development efforts to improve the diagnosis, treatment, and prevention of genetic conditions.

Overall, carrier screening for treatable genetic conditions empowers individuals and couples to make informed choices about family planning and reproductive health, ultimately leading to better outcomes for both affected individuals and their families. It also contributes to the broader goal of reducing the prevalence and impact of genetic diseases in communities and society at large.