GeneVu carrier screening

 

The insight your patients need to prepare for tomorrow

 

 

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Before or during pregnancy, carrier screening can be a critical step in planning for the future.

  • Carrier screening is used to check if a person is a carrier of a genetic disorder that could be passed on to their child.

  • Carriers typically do not have symptoms.

  • Carriers usually do not have a family history of the disorder.

  • Reproductive options are available to couples who learn that they are carriers.

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Why screen?

The American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) recommends that physicians offer carrier screening to all women of childbearing age.

Carrier screening often includes cystic fibrosis and spinal muscular atrophy:

Cystic fibrosis (CF)

Spinal muscular atrophy (SMA)

1 in 31 people are carriers

  • CF is characterized by chronic respiratory and digestive problems.

  • With treatment, people with severe CF can live into their 30s.

1 in 50 people are carriers

  • SMA is characterized by severe muscle weakness and progressive loss of voluntary muscle control.

  • In severe cases, SMA results in death before 2 years of age.

For some patients, additional screening is also warranted:

Fragile X syndrome

Ethnicity-specific tests

1 in 178 people are carriers

  • Fragile X is the most common cause of inherited intellectual disability.

  • Testing is recommended for women with a family history of fragile X, unexplained intellectual disability/autism, or premature ovarian failure.

  • Ashkenazi Jewish descent: disorders including Canavan disease, familial  dysautonomia, and Tay-Sachs disease

  • African American, Asian, and Hispanic descent: hemoglobinopathy blood disorders

Why screen with GeneVu?

GeneVu delivers timely, accurate, and actionable results:

  • Responsible testing that follows medical society guidelines

  • Unmatched peer-reviewed methods and validation: patent-protected, industry-leading innovation

  • The first to bring next-generation sequencing to fertility market for carrier screening

  • Comprehensive and customizable test menu—one size does not fit all

  • Affordable pricing: list price $1500; patient self-pay options $199 (pan-ethnic), $249 (GeneVu23)