尊龙凯时·(中国)人生就是搏!

[Kaiyun’an] Carrier Screening for Monogenic Disease
Introduction

Birth defects are mainly regulated by three factors: heredity, environment, and the interaction between heredity and environment. Based on genetic factors, birth defects can be divided into four types of diseases: chromosomal diseases, genomic diseases, monogenic diseases, and polygenic diseases. Chromosomal diseases usually include numerical and structural abnormalities (such as inversion or translocations) of chromosomes. Genomic diseases include microdeletions/microduplicatins (i.e., copy number variations). Monogenic diseases are caused by mutations of a single gene, which can be divided into dominant inheritance, recessive inheritance, and sex-linked inheritance according to the genetic patterns.

Annoroad’s carrier screening product during the peri-conceptional period [Kaiyun’an] includes 18 diseases with high carrier frequencies in the Chinese population: 5 metabolic diseases, 3 diseases with mental retardation, 3 deafness, 3 blood diseases, 2 muscle diseases, 1 endocrine disease, and 1 skin disease. 18 monogenic diseases involve more than 400+ hot spot mutations of 18 genes.

Advantages
  • PRACTICAL
    18 monogenic diseases that may affect life quality can be screened simultaneously, which is clinically valuable to prevent birth defects.
  • COMPREHENSIVE
    Variant detection includes single base mutations, large deletions or duplications, and intron inversions.
  • PROFESSIONAL
    Annoroad has professional medical research and genetic counseling teams. Through multiple assay platforms, all variants can be detected.
  • ACCURATE
    All variants are from the authoritative disease databases. The detection accuracy can reach up to 99%.
  • RAPID
    the assay results will be available within 15 workdays.
Applicable
  • One or both partners of the couple in the pre-conceptional period
  • One or both partners of the couple in 0~16 weeks of gestation.
In 0~16 weeks of gestation, we suggest both partners of the couple perform carrier screening, which could benefit for rapid and better genetic counseling and childbearing decision-making.
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