Core Product Advantages

1. Economical and Accurate

With high detection accuracy for monogenic genetic disease loci, the product features a high-cost performance ratio, realizing precise screening of genetic disease carriers at an economical detection cost, suitable for large-scale screening of childbearing-age couples.

1. Authoritative and Efficient

Based on authoritative monogenic genetic disease research evidence and standardized detection procedures, the screening process is highly efficient, and the test results provide professional and reliable genetic reference for clinical genetic counseling and birth defect prevention.

1. Convenient and Flexible

Adopts a streamlined sample collection and detection process with simple operation steps, and is applicable to both preconception and early pregnancy screening scenarios, with flexible application to meet the diverse genetic testing needs of different childbearing-age couples.

Applicable Population

1. All childbearing-age couples with pregnancy planning
2. Couples in early pregnancy (≤12 weeks)
3. Couples with a history of adverse pregnancy outcomes
4. Couples planning to have healthy babies through assisted reproductive technology
5. Childbearing-age couples with close blood relations

Clinical Significance

Conducting extended monogenic genetic disease carrier screening in the preconception or early pregnancy period can identify pathogenic variant carriers in couples in advance, and combined with genetic counseling, prenatal diagnosis, assisted reproductive technology and other targeted preventive measures, it can effectively take advance intervention for birth defects, and fundamentally prevent the initial occurrence of severe recessive monogenic genetic diseases in offspring, realizing scientific and proactive birth defect prevention and safeguarding the health of the next generation.

Standard Detection Process

1. Peripheral blood sample collection from both parents
2. Genomic DNA extraction and quality control
3. Monogenic genetic disease locus library preparation
4. High-throughput sequencing of target genetic loci
5. Professional bioinformatics data analysis and variant identification
6. Expert report review and formal distribution
7. One-on-one professional genetic counseling

Lead Time

The whole screening and detection process is standardized and rigorous, and the professional genetic screening report and supporting genetic counseling service can be completed within 15 working days after receiving qualified samples from both parents, ensuring the timeliness of preconception and early pregnancy birth defect prevention decision-making.