Did you know?
One study screening 104 unrelated samples for 448 severe childhood recessive diseases reported an average carrier burden of 2.8 findings per sample; this is not a population-wide estimate.
24% of 23,453 people referred to U.S. clinics had a carrier finding for at least one of 108 disorders on a selected-variant panel; results varied by self-reported ethnicity.
5.2% of that cohort had carrier findings for two or more disorders on the panel; estimates vary by panel and population.
In one Australian program screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy, about 1 in 240 couples screened was identified as at increased risk of an affected child. This program-specific result is not a general population probability.
Inherited genetic risks can go undetected
Genetic risks can go undetected
A study of 104 unrelated samples screened for 448 severe childhood recessive diseases reported an average carrier burden of 2.8 findings per sample. This result is specific to that study and panel, not a population-wide estimate.
- Many carrier have no symptoms
- Carrier may come from families with no known history of genetic conditions
- Both parents carrier may have a child affected by an inherited genetic condition if both carry relevant variants
Understand risks before marriage or pregnancy
Carrier Screening can help:
Learn your carrier status before marriage
Consider screening before pregnancy
Discuss reproductive options with a clinician
Learning about genetic risks can inform family-planning discussions.
Why consider Carrier Screening?
Guideline-informed
Condition selection considers ACMG guidance and clinical relevance.
Panel coverage
Assesses 1,200+ genes and multiple genomic regions, including exons, splicing region, introns, promoters, and UTRs.
Variant database
Informed by data and experience in genetic screening and research.
Experienced team
Supported by experience in genetic screening.
Genetic counseling
Genetic counseling support to help understand results and discuss next steps.
Panel options: Carrier Screening
What can screening assess?
Autosomal recessive conditions
Learn whether you carry a genetic variant that could be passed on to a child.
X-linked conditions
Assess carrier status for X-linked genetic conditions.
Example conditions
Spinal Muscular Atrophy
Cystic Fibrosis
Autosomal Recessive Deafness
Duchenne Muscular Dystrophy
How does Carrier Screening?
Consultation
Discuss your family health history with a clinician.
Sample collection
A 5 mL blood sample is collected.
NGS analysis
Laboratory analysis uses Next Generation Sequencing (NGS)
Results and counseling
Receive a results report and discuss next steps in a follow-up consultation.