Molecular based newborn screening in Germany: Follow-up for cystinosis.

ABSTRACT:

Background

Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far.

Methods

This prospective pilot study was performed within the German NBS framework. DNA, extracted from dried blood cards was collected as part of the regular NBS program. As cystinosis has a prevalence of only 1:100,000-1:200,000, a molecular genetic assay for detection of the SMN1 gene mutation with a higher prevalence was also included in the screening process, a genetic defect that leads to spinal muscular atrophy (SMA). First tier multiplex PCR was employed for both diseases. The cystinosis screening employed assays for the three most common CTNS mutations covering 75% of German patie

SUBMITTER: Hohenfellner K 

PROVIDER: S-EPMC6796768 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature