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What is a newborn screening?

Newborn screening is a genetic testing on newborns to help prevent death or disability and by screening and identifying genetic diseases to allow accurate diagnosis and treatment.

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Most inherited metabolic disorders are hard to detect from the naked eye. In some cases, visible symptoms occur only after damage to organs is already done. Many of these diseases can be treated or prevented with correct medical intervention. Newborn screening is important to ensure the newborn's healthy future. Currently, screening for 6 diseases are paid by the government, but improvements in test accuracy and the number of screenable diseases need to be made.

What are Inherited Metabolic Disorders?

Inherited Metabolic Disoders are genetic diseases caused by deficiecies in certain enzymes in metabolic pathways caused by problems in genes. There are more than 500 known inherited metabolic diseases and new diseases are being found even to this moment.

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What's NewbornDiscovery?

NewbornDiscovery is a SD Genomics' specialized service that screens for 100 diseases from DNA extracted from the newborn's blood.

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Inherited metabolic disorders are caused by problems in genes. Therefore, knowing the existence of certain genetic variations in certain genes early is very important. Earlier the diagnostics can be made, lesser the irreversible damage to the newborn is done. This is deterimental to the newborn's future. NewbornDiscovery takes small amount of blood from the newborn's heel within 48 hours to 7 days within birth, and with one test more than 100 diseases can be screened. NewbornDiscovery has two versions : Focused version which tests for basic 59 inherited metabolic disorders and Extended version which additionally screens for 41 more diseases including hearing loss, glycogen storage diseases, and lysosomal storage diseases. 

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NewbornDiscovery Extended : Screening for more diseases

NewbornDiscovery can check additional diseases or conditions that can threaten the newborn's health, helping to respond early.

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NewbornDiscovery Extended version can screen diseases that are not easier to detect without genomic testing. Some examples in this group of disease include Fabry disease, and Gaucher disease. NewbornDiscovery LSD identifies the nine most frequently occurring lysosome diseases from gene-abnormalities. The initial symptoms of the LSD disease group are not easily pertained to LSD disease group. Thus, these diseases are rarely diagnosed even in a thorough check up. In severe cases, these diseases may not be diagnosed correctly for many years as LSD disease can only be confirmed by genetic testing.

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The prevalence of Fabry disease in Asians is estimated to be one per 1,500 newborns. In another report, it was estimated to be one per 4,000 newborns. There is a case of mucocele dystrophy in Asians from one of 7,000 newborns.

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In the case of metabolic diseases, it is possible to perform, albeit limited, examination by Tandem Mass Spectrometry. However, since LSD disease group is not uncommon, it is difficult to make a definite judgment by mass analysis alone without genetic testing. The degree and timing of symptoms may vary from person to person. NewbornDiscovery LSD allows early diagnosis before it a disease before it causes damage.