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[Kaiyun’an] Carrier Screening for Monogenic Disease

Introduction
Advantages
Applicable

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 translocation) 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.