Identifying hidden genetic risks before pregnancy with Expanded Carrier Test
Carrier Screening
Bioscience Institute’s MyCarrier test provides an advanced approach to identifying hidden genetic risks before pregnancy
MyCarrier is an Expanded Carrier Test that uses Next-Generation DNA Sequencing (NGS) and advanced bioinformatics algorithms to detect mutations in more than 1,200 genes associated with over 1,200 genetic diseases.
The test offers >99.9% sensitivity and specificity, ensuring the highest level of reliability and precision.Gold Standard confirmatory techniques, such as Sanger sequencing, MLPA, qPCR, and gap-PCR.
The added value of MyCarrier lies in the clinical interpretation of results, which translates complex genetic data into clear, actionable information for healthcare professionals and patients.
Why Choose the MyCarrier Test
The MyCarrier test combines scientific accuracy with clinical relevance, offering a reliable and comprehensive tool for genetic risk assessment.
Only a simple blood sample is required to perform the analysis, which can detect mutations associated with up to 1,200 inherited disorders.
Depending on specific needs, the test is available in three focused versions dedicated to single conditions — Fragile X Syndrome, Thalassemia α–β, and Hemophilia A — and in three expanded panels that cover hundreds of additional diseases.
Results are typically delivered within approximately 21 working days (or 30 for the TOP version) and include a detailed clinical interpretation reviewed by Bioscience Institute’s genetics team.
For couples who wish to receive personalized guidance, genetic counseling is also available upon request, providing clear explanations and support for informed reproductive decisions.
Screening Levels
MyCarrier is available in five testing levels, allowing for tailored screening based on clinical needs or patient preference.
Click on each option below to view the complete list of diseases and genes analyzed in each test panel.
Fragile X Syndrome analysis is always included in all MyCarrier test versions
Who Should Consider the Test
Carrier screening provides valuable information for individuals and couples who:
- Are planning a pregnancy or are already expecting
- Have an increased risk for a specific hereditary condition
- Are considering assisted reproduction or donor conception
- Wish to assess the risk of having a child affected by a genetic disorder
In-depth Information
Would you like to explore further or learn more? Access comprehensive explanations by expanding the sections below.
INHERITANCE PATTERNS AND GENETIC COMPATIBILITY
Every individual carries several recessive genetic variants that usually have no effect on their own health.
However, when both partners share a pathogenic variant in the same gene, the risk of transmitting the related disorder to their child becomes significant.
Understanding this mechanism of inheritance is fundamental for reproductive planning, as it allows couples to evaluate compatibility and consider preventive options such as preimplantation genetic testing or prenatal diagnosis.
THE CLINICAL VALUE OF EXPANDED PANELS
The use of Next-Generation Sequencing (NGS) in expanded carrier screening makes it possible to analyze hundreds of genes simultaneously with exceptional precision.
Unlike older tests that focused on a few common mutations, MyCarrier detects rare and population-specific variants that could otherwise remain unnoticed.
This comprehensive approach ensures a higher level of diagnostic accuracy and provides actionable data to healthcare professionals involved in reproductive medicine.
GENETIC COUNSELING: TURNING DATA INTO DECISIONS
The information provided by MyCarrier gains its true value through accurate interpretation.
Genetic counseling helps couples understand the results in the context of their personal and family medical history.
Counselors guide patients through risk assessment, explain inheritance probabilities, and discuss possible next steps, supporting informed, confident, and responsible reproductive choices.