Single Gene Sequencing is a targeted genetic testing approach used when a physician suspects that a specific gene may be responsible for a patient’s symptoms or medical condition.

Unlike broader testing methods such as Whole Exome Sequencing or Whole Genome Sequencing, this approach focuses on a single gene that is strongly associated with the suspected diagnosis. This can provide a more focused and efficient testing pathway when clinical features clearly indicate a particular genetic disorder.

Single Gene Sequencing may be considered for inherited conditions with well-established genetic causes, confirmation of previously suspected diagnoses, or family investigations where a specific genetic variant is already known.

At Mass Diagnostics, testing is coordinated through trusted international partner laboratories, with support for test selection, sample collection, logistics, and report delivery.