Newborn Screening

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.

【衛教新知】染色體晶片的分享 關鍵防線篇

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