Introduction

Expanded carrier screening (ECS) is able to identify genetic carriers across a spectrum of diseases and it is a cost effective in comparison to traditional carrier screening. The results would inform couples their risk of having offspring affected by certain genetic conditions and help to make a better reproductive decision. A recent large cohort indicated that approximately 64% of individuals were carriers of one or more disorders in the expanded carrier screening analysis. It would be as high as 1 in 175 pregnancies being affected by a disorder in the cohort as well. In reality, most people have no family history of the disease and do not know their carrier status prior to testing. ECS in Pangenia employs the "next-generation" or "second-generation" sequencing technology for the analysis of about five hundreds inherited diseases simultaneously. Individual can know their risk of the inherited diseases in 4-6 weeks. Two carrier panels are available in Pangenia Genomics.


Westemeyer, M., Saucier, J., Wallace, J. et al. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach. Genet Med 22, 1320–1328 (2020).

Who is the test for?

  • general population (from child to adult) who wish to know the risk of conceiving a specific recessive inherited disease
  • preconception couples who wish to know their risk of conceiving a child affected by a specific recessive inherited disease
  • consanguineous couples, who usually have increased risk of recessive disease occurrence in their offspring
  • people of ethnic backgrounds in which some recessive diseases are more prevalent
  • couples who will undergo Assisted Reproduction treatment

Advantage of the test

  • cover 409 inherited diseases including 14 conditions recommended by The American College of Medical Genetics and Genomics (ACMG) and The American College of Obstetricians and Gynecologists (ACOG)
  • Cystic fibrosis
  • Beta thalassemia
  • Alpha thalassemia
  • Spinal muscular atrophy
  • Mucolipidosis, Type IV
  • Bloom syndrome
  • Canavan disease
  • Familial dysautonomia
  • Niemann-Pick disease, Types A/B
  • Sickle cell disease
  • Tay-Sachs disease
  • Gaucher disease
  • Fanconi anemia, Group C
  • Fragile-X (triplet repeat expansion analysis)
  • with conditions common to those of Ashkenazi Jewish descent
  • detection of SMA (2+0) silent carrier

Who is the test for?

  • general population (from child to adult) who wish to know the risk of conceiving a specific recessive inherited disease
  • preconception couples who wish to know their risk of conceiving a child affected by a specific recessive inherited disease
  • consanguineous couples, who usually have increased risk of recessive disease occurrence in their offspring.
  • people of ethnic backgrounds in which some recessive diseases are more prevalent.
  • couples who will undergo Assisted Reproduction treatment

Advantage of the test

  • the most comprehensive carrier screening panel covering 484 inherited diseases with dual verification technology and including 14 conditions recommended by ACMG and ACOG
  • Cystic fibrosis
  • Beta thalassemia
  • Alpha thalassemia
  • Spinal muscular atrophy
  • Mucolipidosis, Type IV
  • Bloom syndrome
  • Canavan disease
  • Familial dysautonomia
  • Niemann-Pick disease, Types A/B
  • Sickle cell disease
  • Tay-Sachs disease
  • Gaucher disease
  • Fanconi anemia, Group C
  • Fragile-X (triplet repeat expansion analysis)
  • with conditions common to those of Ashkenazi Jewish descent
  • detection of SMA (2+0) silent carrier