Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy.

ABSTRACT:

Background

Spinal muscular atrophy (SMA) is a devastating neuromuscular condition resulting from the loss of the survival motor neuron 1 (SMN1) gene. Precise genetic testing has become essential after the authorization of several potent medications. To achieve this objective, the use of dried blood spot (DBS) has assured convenient and extensive testing from a distance. Nevertheless, developing countries such as Indonesia sometimes lack access to standard filter papers like FTA or Guthrie cards for DBS processing. Here, we aim to develop a cellulose-based card as an alternative filter paper for DBS preparation suitable for the genetic testing of SMA including but not limited to a direct polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and multiplex alle

SUBMITTER: Wijaya YOS 

PROVIDER: S-EPMC11829459 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature