Do You Know?
On average, each person carries 2–3 recessive pathogenic genetic variants. They may show no symptoms themselves, but if both partners in a couple carry the same gene mutation, their baby has a 25% chance of developing the corresponding disease. Carrier screening is precisely to guard the health of the future generation.
What is Carrier Screening?
Carrier Screening is a genetic test for healthy individuals, designed to detect whether they carry pathogenic gene mutations for recessive genetic diseases or some X-linked genetic diseases. Although carriers usually show no symptoms themselves, if both partners carry mutations in the same disease-related gene, their offspring have a 25% risk of developing that disease.
Through carrier screening, couples planning for pregnancy can understand potential risks before conception or in early pregnancy, and scientifically develop fertility and health management plans. For adults who are concerned about their own health, Comprehensive Carrier Screening can also be used to conduct an accurate assessment of their health status, thereby reducing the risk of developing diseases through health management and disease prevention.
Product Introduction
Based on its independently developed TargetSeq® Technology Platform, iGeneTech has jointly developed a carrier screening product–Carrier Screening Panel–with Dr. Zhou Zaiwei from Shanghai Xunyin.
This product includes 216 genes related to genetic diseases and the full-length mitochondrial sequence. It achieves 100% coverage of the following guidelines and gene lists:
The Carrier Screening Guidelines [1] released by the American College of Medical Genetics and Genomics (ACMG) in 2021;
The Secondary Findings Gene List [2] released by ACMG in 2023;
The ASCO Hereditary Tumor-Related Gene List [3].
Figure 1 Basic Performance Indicators of the Carrier Screening Panel. At an average [sequencing] depth of 250-300×, the product exhibits excellent capture efficiency and uniformity indicators.
Figure 2 Stable Mitochondrial Depth
At an average sequencing depth of 300×, the mitochondrial depth of multiple batches of probes remains stably above 5000×.
Product Advantages
Comprehensive Coverage: Covers 216 core genes, secondary findings genes, and hereditary tumor-related genes, encompassing both common and severe genetic diseases.
Professional Interpretation: Conducts variant annotation and interpretation by combining guidelines from ClinVar, OMIM, and ACMG/AMP, along with Shanghai Xunyin’s professional analysis software.
Customizable: Supports customized expansion of the gene list based on the needs of hospitals or laboratories.
Product Info
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