Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

ABSTRACT:

Background

Rare diseases are complex disorders with huge variability in clinical manifestations. Decreasing cost of next-generation sequencing (NGS) tests in recent years made it affordable. We witnessed the diagnostic yield and clinical use of different NGS strategies on a myriad of monogenic disorders in a pediatric setting.

Methods

Next-generation sequencing tests are performed for 98 unrelated Chinese patients within their first year of life, who were admitted to Xin Hua Hospital, affiliated with Shanghai Jiao Tong University School of Medicine, during a 2-year period.

Results

Clinical indications for NGS tests included a range of medical concerns. The mean age was 4.4 ± 4.2 months of age for infants undergoing targeting specific (known) disease-causing genes (TRS

SUBMITTER: Hong S 

PROVIDER: S-EPMC6565546 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature