What is carrier screening?
Carrier screening is a DNA test available to individuals or couples who are planning a pregnancy or are currently pregnant. The purpose of carrier screening is to identify carriers. Carriers are individuals who are at risk to have a child with a serious genetic condition. For some conditions, there is up to a 50% chance that each of your male children will be affected.
Carriers are usually healthy and have no family history of the genetic condition
3 out of 4 (75%) people are carriers for at least one recessive genetic condition
Most people do not know they are a carrier of a genetic condition until they have an affected child
Carrier screening through HealthyGene includes hundreds of genetic conditions, which have a range of symptoms, some of which can be life-threatening. Some recessive conditions can be managed with a special diet, while others can lead to medical issues such as seizures, muscle problems, neurological issues, and others. Some conditions are life-threatening or life-limiting, leading to death in childhood. Some conditions are present at birth and others appear later in childhood.
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Learn if you are a carrier for one (or more) of over 600 genetic conditions
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For some conditions, there is up to a 50% chance that each of your male children will be affected.
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Most carriers do not have a family history of the genetic condition, and so have no way of knowing their risk without genetic carrier screening
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Use this information to make more informed decisions for you and your family. For example:
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Using in-vitro fertilization (IVF) vs. conceiving naturally
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Considering the use of an egg or sperm donor, or adoption
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Testing a pregnancy vs. waiting to test until after birth
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Testing your other children
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According to the American College of Obstetricians and Gynecologists, the ideal time to have carrier screening is before a pregnancy.
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Meet with a board-certified genetic counselor and review your personal and family medical history
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Receive a genetic test kit in the mail and send back a cheek swab
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Review your test results and your customized clinical action plan with your HealthyGene genetic counselor
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Discuss your clinical action plan with your doctor and personalize your healthcare, with HealthyGene there to support you any time
How it works
Reproductive Health Consultation
Carrier screening can give you essential information about your reproductive health, but the results can be hard to understand, and you want to feel confident about next steps. Your HealthyGene genetic counselor will walk you through the carrier screening process from start to finish, help you understand your carrier screening results, and explain any next steps. Genetic counselors are masters-level healthcare providers who are board-certified by the American Board of Genetic Counseling.
60 Minute Pre-test Consultation
You'll meet with a board-certified genetic counselor to review your personal and family medical history and discuss carrier screening options
Personal Disease Risk Assessment
Your HealthyGene genetic counselor will also assess your personal and family medical history to determine if any other genetic testing is recommended (such as genetic testing for hereditary cancer or heart conditions)
30 Minute Post-Test Consultation
You'll review your carrier screening results with your HealthyGene genetic counselor and discuss recommendations for next steps, which may include testing your partner
Your Pedigree
(Family Tree)
You'll receive a copy of your pedigree, which is a family tree with medical information. You'll also have access an editable online version of your pedigree, so you can easily communicate updates to your HealthyGene genetic counselor
Personalized Clinical Action Plan
Your genetic counselor will create a personalized clinical action plan, including a complete interpretation of your genetic carrier screening results and recommendations to discuss with your doctor
Place Order for Carrier Screening Test
Your HealthyGene genetic counselor will place the order for the carrier screening test. The carrier screening test itself is not included in the price of the consultation, however carrier screening is often covered by health insurance. The self-pay cost is $350
Ready to book?
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Frequently Asked Questions
Can my doctor order carrier screening for me? Why should I see a genetic counselor for testing?
Yes, doctors are able to place orders for carrier screening. However, most doctors do not have expertise in genetics and may not order testing for all of the genes that are available. A HealthyGene genetic counselor will take a full family history to ensure all appropriate genes are included on your carrier screening, and may make recommendations for additional genetic testing based on your personal and family health history. Additionally, working with a HealthyGene genetic counselor ensures that you go into genetic testing fully informed. If you are found to be a carrier, you are already working with an expert who can facilitate carrier testing for your partner and connect you with the correct resources quickly.
Does insurance cover carrier screening?
Carrier screening is often covered by insurance plans. If your insurance does cover testing, it is still subject to the deductible and any co-insurance required by your plan. Our laboratory partner will contact you if your out-of-pocket cost will be over $100.
What is the cost of genetic testing?
If you choose not to use insurance, the fee charged by our laboratory partner is $350.
Does HealthyGene accept insurance?
HealthyGene is not currently in-network with insurance providers. However, we accept HSA/FSA cards and can provide an itemized receipt (superbill) upon request which you can submit to your insurance for potential reimbursement.
HealthyGene, PLLC is a digital genetic counseling clinic offering telehealth services. Genetic counselors are masters-level healthcare providers who are board-certified by the American Board of Genetic Counseling and require a license in many states.