Early discovery and intervention to keep children healthy
Genetic Screening for DD/ID (Cyto-82)
Specifically designed for Asian genes, it is developed to screen for developmental delay, intellectual disorder, as well as 82 small CNVs and nearly 100 large CNVs and aneuploidy disorders.
Sensorineural Hearing Loss Screening
In collaboration with Dr. Ko Tsang-Ming’s lab, Phalanx Biotech developed a test covering more than 90% of the four common hearing impairment-related genes and 361 alleles. It is used with conventional physical examination to provide parents with a more complete result.
Congenital Cytomegalovirus(CMV) Infection Screening
Cytomegalovirus infection causes congenital erroneous development of central nervous system. Conducting the test in two weeks following birth better excludes an acquired cytomegalovirus infection.
Congenital Central Hypoventilation Syndrome(CCHS) Screening
Congenital Central Hypoventilation Syndrome(CCHS) is an Autosomal dominant hereditary disorder associated with respiratory center. Its incidence is approximately 1/10,000~1/200,000. Early diagnosis in newborns via gene testing provides adequate respiratory support and treatment to reduce sudden death at night and improve survival.
Metabolic Disorder Screening
This procedure is able to screen for 24 hereditary metabolism disorders including amino metabolism disorder, organic acid metabolism and fatty acid oxidation disorder, which is helpful in early discovery and intervention to prevent from or avoid infant disability or death.