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