Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential.
(Newborn Genome Screening)
Early detection diagnosis and intervention can prevent disability or death and enable children to reach their full potential. i-screen newborn genome screening test uses NGS method to screen 23
pairs of chromosomes and provide test result on 90 diseases including autism, mental retardation, developmental disorder etc.
Deletion or duplications of parts of the chromosome may cause severe abnormalities. Such chromosomal diseases are mostly without a complete treatment but early detection and appropriate treatment may help manage symptoms more efficiently.
Wilson Disease Screening Test
A disease in which excessive amounts of copper accumulates mainly in the liver and basal ganglia of the brain due to abnormal copper metabolism. In children with Wilson's Disease, symptoms usually appear after the age of 5 years. At first, it shows asymptomatic hepatomegaly in which only liver enzymes increase, but eventually progresses to chronic active hepatitis, liver cirrhosis, and portal hypertension. Getting an early diagnosis of Wilson's Disease, controlling copper diet and intaking copper absorption inhibitors, copper chelating agent consistently can lead to a normal life.
Hereditary Hearing Loss Screening Test
70% of hereditary hearing loss develops from non-syndromic hearing loss. Hence, it is harder to suspect compared to other diseases. If you miss the time your baby can be detected, the baby may develop impairments of language development, cognitive ability, reading, and learning ability.If the cause of hearing loss is identified early, and appropriate measures are taken on time, the affected child’s linguistic ability can be developed to a level similar to that of non-patients.