Understanding Carrier Status Analysis for Genetic Conditions

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What is a carrier status test?

Carrier status tests detect genetic variants that can cause inherited conditions. These variants are often found primarily in certain ethnicities. Being a carrier means you have one variant for the condition. Carriers typically don't have the condition but can pass the variant to their children.

What is genetic carrier screening?

Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene (s) associated with a diagnosis. Information about genetic carrier screening should be provided to every pregnant woman.

What if a person is a carrier for a genetic condition?

When an individual is found to be a carrier for a genetic condition, his or her relatives are at risk of carrying the same mutation. The patient should be encouraged to inform his or her relatives of the risk and the availability of carrier screening.

What is a carrier status report?

Your Carrier Status Reports can help you create a more informed health plan with your doctor as you grow your family. 23andMe’s Health + Ancestry Service includes over 40 Carrier Status Reports. If you do discover you’re a carrier, we encourage you to talk to a genetic counselor if you plan to start a family soon.

What is carrier status?

Carrier status involves both clinical and genetic distinctions. Since carriers are defined as clinically invisible, what the expression of a genetic disease does look like must be determined first, in order to define what a carrier of the disorder will not. Carrier status is also defined by the possession of a specific genetic trait.

How do you determine a carrier of a genetic disease?

When determining carrier status, it is just as important to define what a particular genetic disease does not look like, as what it does. For the most part, being considered a carrier of a genetic disease is about being classified as clinically invisible for that disorder.

Are inherited conditions included in expanded carrier screening?

It was found that 1 in 2 people (47.8% of the population) was a carrier for any recessive condition, and 1 in 12 individuals (8.30% of the population) was a carrier for treatable inherited conditions. Our results could serve as a reference to evaluate the conditions to be included in expanded carrier screening in Southern Chinese individuals.

What Is Carrier Status Analysis For Hereditary Conditions

1. https://www.23andme.com/test-info/carrier-status/
2. https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screening-for-genetic-conditions
3. https://www.nature.com/articles/s41525-022-00287-z
4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449659/
5. https://www.sciencedirect.com/science/article/pii/B9780128125717000058
6. https://thednatests.com/carrier-status-reports/

Carrier Status Analysis For Hereditary Conditions Information

1. https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.62267
2. https://www.thermofisher.com/uk/en/home/clinical/clinical-genomics/reproductive-health-solutions/reproductive-health-education/carrier-screening-information.html