Expanded carrier screening

To identify asymptomatic individuals who carry variants associated with various single-gene conditions, including

  • autosomal recessive conditions (e.g. Thalassemia, Non-syndromic Hearing Loss, Congenital Adrenal Hyperplasia, Spinal Muscular Atrophy)
  • X-linked recessive conditions (e.g. Fragile X Syndrome, Haemophilia, Duchenne Muscular Dystrophy)

Two testing platform are available.

Uni-ECS evaluates 453 genes associated with autosomal recessive and X-linked disorders.

Uni-ECS Plus evaluates 708 genes which includes

  • 453 genes in Uni-ECS panel
  • extra 74 genes in ACMG secondary findings (v3.2) gene list
  • an additional 181 genes in infertility panel

Complete gene lists can be found by scanning the following QR codes.

Uni-ECS Gene Panel Uni-ECS Plus Gene Panel