$813
Most of us are carriers of a handful of genetic diseases that do not impact our everyday lives. This screening tool looks for up to 289 conditions that occur in 1 in 550 births. Of the conditions we test for:
It’s normal to be a carrier. However, if both members of a couple are carriers of the same autosomal recessive condition, they have a 25% chance with each pregnancy to have a child affected with that condition. Access to such valuable information before or early in pregnancy allows time to make better family planning choices.
A carrier screen analyzes a person’s genes to determine if that person is a carrier of a recessive or X-linked condition. Expanded Carrier Screening looks at up to 289 different hereditary conditions that, together, occur in 1 in 550 births.
Recessive disorders are caused by changes (called mutations) in a person’s genes. Every person has two copies of most genes, one inherited from each parent. A recessive disease occurs when both copies of the same gene have a mutation.
A carrier is someone who has only one gene with a mutation and one gene that is unaffected. Carriers are typically symptom-free and do not know they carry a mutation. In some instances, the condition is inherited differently — only the female needs to be a carrier to have a baby at risk. Fragile X syndrome is an example of this.
Most of us are carriers of a handful of genetic diseases that do not impact our everyday lives. However, these conditions can be passed, unknowingly, to a child. If both members of a couple are carriers of the same recessive condition, they have a 1 in 4 chance with each pregnancy to have a child affected with a genetic disease.
Of the conditions that we test for:
Access to such valuable information before or early in pregnancy allows time to make better family planning choices.
Expanded Carrier Screening sequences the entire gene to identify carrier couples of all ethnicities for up to 569 inherited disorders, such as Canavan disease, Cystic Fibrosis, Niemann-Pick disease, Tay Sachs, and Gaucher disease.
Expanded Carrier Screening is useful in meeting the recommendations provided by at least two Canadian physician societies — the Society of Obstetricians and Gynaecologists of Canada (SOGC) and the Canadian College of Medical Geneticists (CCMG). In their article, An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing (August 2016), they provide several principles for carrier screening, which are summarized as follows:
*Timing estimates do not include time required for physician appointments, requisitions, consent signatures, sample collection, statutory holidays, or courier/shipping times
Reports are sent to healthcare providers only. LifeLabs Genetics will not share results directly with patients.
Results documentation includes the following:
Invitae utilizes next-generation sequencing technology to screen for mutations in genes relating to 569 genetic conditions.
Click here to review the full list of diseases screened.
The accuracy, sensitivity, and specificity of this test are each >99%.
This screening test is conducted and fully supported by Invitae. Invitae has published a comprehensive set of research materials and publications on the test.
See References tab for more information.
| ECS Requisition | |
| Physician Aid | Download Here |
| Patient Aid | Download Here |
| Expanded Carrier Screen Gene List | Download Here |
| SOGC Guidelines | Download Here |
A carrier screen analyzes a person’s genes to determine if that person is a carrier of a recessive or X-linked condition. Expanded Carrier Screening looks at up to 289 different hereditary conditions that, together, occur in 1 in 550 births.
Recessive disorders are caused by changes (called mutations) in a person’s genes. Every person has two copies of most genes, one inherited from each parent. A recessive disease occurs when both copies of the same gene have a mutation.
A carrier is someone who has only one gene with a mutation and one gene that is unaffected. Carriers are typically symptom-free and do not know they carry a mutation. In some instances, the condition is inherited differently — only the female needs to be a carrier to have a baby at risk. Fragile X syndrome is an example of this.
Most of us are carriers of a handful of genetic diseases that do not impact our everyday lives. However, these conditions can be passed, unknowingly, to a child. If both members of a couple are carriers of the same recessive condition, they have a 1 in 4 chance with each pregnancy to have a child affected with a genetic disease.
Of the conditions that we test for:
Access to such valuable information before or early in pregnancy allows time to make better family planning choices.
Expanded Carrier Screening sequences the entire gene to identify carrier couples of all ethnicities for up to 569 inherited disorders, such as Canavan disease, Cystic Fibrosis, Niemann-Pick disease, Tay Sachs, and Gaucher disease.
Expanded Carrier Screening is useful in meeting the recommendations provided by at least two Canadian physician societies — the Society of Obstetricians and Gynaecologists of Canada (SOGC) and the Canadian College of Medical Geneticists (CCMG). In their article, An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing (August 2016), they provide several principles for carrier screening, which are summarized as follows:
*Timing estimates do not include time required for physician appointments, requisitions, consent signatures, sample collection, statutory holidays, or courier/shipping times
Reports are sent to healthcare providers only. LifeLabs Genetics will not share results directly with patients.
Results documentation includes the following:
Invitae utilizes next-generation sequencing technology to screen for mutations in genes relating to 569 genetic conditions.
Click here to review the full list of diseases screened.
The accuracy, sensitivity, and specificity of this test are each >99%.
This screening test is conducted and fully supported by Invitae. Invitae has published a comprehensive set of research materials and publications on the test.
See References tab for more information.
| ECS Requisition | |
| Physician Aid | Download Here |
| Patient Aid | Download Here |
| Expanded Carrier Screen Gene List | Download Here |
| SOGC Guidelines | Download Here |
Expanded Carrier Screening is ordered under the guidance of a healthcare provider. Contact us if you need help or have questions.
Download the patient package now (includes consent and requisition forms).
The patient package should be completed at this appointment. The physician will complete the requisition form, and the patient will complete the consent form.
You can pay for the test at a Patient Service Centre or using a payment form. Some patients may be eligible to apply for government health insurance coverage. Examples of when Expanded Carrier Screening has been covered by provincial health plans, include (but are not limited to):
Some personal medical insurance plans may cover the cost of the test. Check with your insurance company.
Provide a blood or saliva sample. For greater convenience, book an appointment online. Your physician may also collect and send a sample that meets specific requirements to a LifeLabs Patient Service Centre.
Please contact us for ordering details for all other provinces. Self-collection saliva kits are available nationally (watch this video to properly collect a saliva sample).
The ordering physician will receive an email or fax when the results are ready. Meet with your physician to discuss next steps.
All patients have access to a post-test counselling session with a certified genetic counsellor from Invitae. To access this, use the RQ number on your report to create an online account with Invitae. With the account, you can view result-specific educational videos online and schedules an appointment for genetic counselling. After you speak with the genetic counsellor, your physician will receive a summary letter of the session.
Download the patient package now (includes consent and requisition forms).
The patient package should be completed at this appointment. The physician will complete the requisition form, and the patient will complete the consent form.
You can pay for the test at a Patient Service Centre or using a payment form. Some patients may be eligible to apply for government health insurance coverage. Examples of when Expanded Carrier Screening has been covered by provincial health plans, include (but are not limited to):
Some personal medical insurance plans may cover the cost of the test. Check with your insurance company.
Provide a blood or saliva sample. For greater convenience, book an appointment online. Your physician may also collect and send a sample that meets specific requirements to a LifeLabs Patient Service Centre.
Please contact us for ordering details for all other provinces. Self-collection saliva kits are available nationally (watch this video to properly collect a saliva sample).
The ordering physician will receive an email or fax when the results are ready. Meet with your physician to discuss next steps.
All patients have access to a post-test counselling session with a certified genetic counsellor from Invitae. To access this, use the RQ number on your report to create an online account with Invitae. With the account, you can view result-specific educational videos online and schedules an appointment for genetic counselling. After you speak with the genetic counsellor, your physician will receive a summary letter of the session.
With this expanded carrier screen, you and your partner have the option to take the test independently (i.e., at different times) or at the same time. If you are already pregnant,taking the test together may allow more time for planning, decision making, additional testing, and early intervention, if necessary.
The test occasionally adds new, detectable conditions to the test protocol and additional details to its reports. If the test makes enhancements to the test during the gap(s) between pregnancies and you want to take advantage of those enhancements, you will have to pay for and take the test again. LifeLabs Genetics does not keep your sample on file for future test reruns.
No genetic test can provide a 100% guarantee that you will have a healthy pregnancy and a healthy baby. Expanded Carrier Screening looks at up to 569 different genetic conditions. The screen can identify over 99% of possible mutations in most of the genes screened, but it does not rule out all possible conditions.
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Genetic testing can seem complicated. Our team of certified genetic counsellors and client-care specialists are available to support you along the way.
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