Benefits of NGS for Genetic Testing of Primary Lymphedema

The primary lymphedema of the extremities is a rare disease. Understanding the spectrum of genes and mutations that most commonly underlie primary lymphedema will lead to improved patient care through the development of new targeted therapies. We performed Whole Exome Next-generation sequencing (NGS) for probands from two families with multiple members affected by primary lymphedema. We have discovered a new mutation in gene HGF that is the etiological factor in primary lymphedema. Nevertheless, further cohort studies are required to better understand the genetic diversity of primary lymphedema.