CarrierGene™

Family Planning to empower patients with the essential knowledge

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Test Introduction

CarrierGene™: Comprehensive & Singapore-Centric Carrier Screening


iGene Laboratory’s CarrierGene™ is tailored to meet the unique needs of Singapore’s population, offering a Singapore-centric carrier screening panel that prioritizes locally relevant conditions. Our test is designed to address locally relevant conditions, ensuring that patients and physicians receive the most accurate and meaningful results to guide reproductive health decisions.

Additionally, CarrierGene™ includes genes relevant to conditions allowable for Pre-Implantation Genetic Testing (PGT), aligning with the regulatory framework for Assisted Reproductive centres. This allows patients undergoing reproductive planning to make informed decisions in line with Ministry of Health-approved guidelines.

To accommodate diverse screening needs, CarrierGene™ offers two panels: CarrierGene™ Focus and CarrierGene™ Enhanced. Both panels provide full gene coverage, ensuring the detection of various mutations with high accuracy and low cost. The test requires only a single blood draw and can be performed alongside Non-Invasive Prenatal Testing (NIPT) for added convenience.

CarrierGene™ Focus: is a Singapore-centric screening panel designed to align with carrier frequencies in the Southeast Asian population, ensuring clinical relevance for the region. It prioritizes conditions relevant to Singapore, supporting informed reproductive planning. The panel covers some MOH-approved conditions for PGT and includes ACMG-recommended conditions, meeting global medical standards. As recommended by ACMG, all pregnant individuals and those considering pregnancy should be offered Tier 3 carrier screening.

CarrierGene™ Enhanced: An extended panel that analyzes genes associated with autosomal recessive (AR) disorders and X-linked conditions. This panel includes over 700 AR conditions, covering all 113 ACMG Tier 3 genes and many additional conditions with severe presentations. All these conditions have a carrier frequency of more than 1 in 200, while the remaining genes fall under Tier 4 with a carrier frequency of less than 1 in 200.

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

Khai and Nadia had always dreamt of starting a family, but both carried history of genetic disorders. Khai had a sibling affected by a rare condition, while Nadia’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, Khai and Nadia 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.