Carrier screening（AssuriT-CS）-Celula China Med-Technology Co.,Ltd

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Carrier screening（AssuriT-CS）

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The overall incidence rate for single-gene disorders is as high as 1%, higher than that of Down syndrome. Some representative examples of single-gene genetic disorders include: such as Thalassemia, Hereditary hearing loss, Phenylketonuria, and Spinal muscular atrophy (SMA).

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AssuriT-CS200

Expanded Carrier Screening (ECS) is a genetic test designed to identify asymptomatic carriers of pathogenic variants associated with inherited disorders. By simultaneously analyzing multiple genes, ECS empowers couples to assess their risk of transmitting monogenic conditions to their offspring.

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AssuriT-eWES-CS

AssuriT-eWES-CS delivers comprehensive genomic risk assessment through expanded whole-exome sequencing, which providing actionable insights for reproductive planning and lifelong health management.

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Most children with monogenic genetic diseases do not show structural malformations during embryonic development, which are not easily detected by imaging, and many recessive genetic diseases often do not have a clear family history of inheritance; therefore, effective prevention and control of monogenic genetic diseases cannot be achieved by conventional means of obstetrical testing, and extended carrier screening is recommended by domestic and international clinical guidelines and experts' consensus as an effective measure for the prevention and control of birth defects in monogenic genetic diseases.