FAQs for Patients and Healthcare Providers

Questions

How do I order TreatGxplus?

Why should I choose the LifeLabs Genetics hereditary breast and ovarian cancer test?

Will my insurance premiums increase if my BRCA 1/2 test results are positive?

Why is the LifeLabs Genetics breast cancer test superior to other tests?

What kind of BRCA 1/2 testing does LifeLabs Genetics offer? What type of testing should I order?

Where can I find the pricing for one of these 3500+ hereditary tests?

If I paid for my test privately, why aren’t the results released to me?

Can I just test for the sex of my baby?

I’m unsure which test details to include in my order/requisition. Can I call LifeLabs Genetics for guidance?

How accurate is the Panorama™ prenatal screening test compared to others?

I forgot to check off the fetal sex request on my Panorama™ requisition. Can I still find out the sex?

Can an egg donor recipient have the Panorama™ test done?

Can I review my Panorama results online?

I live outside of Ontario and BC. How can I get a non-invasive prenatal test done?

Can you describe the conditions tested for and how they occur?

How is risk calculated after the Panorama Test?

What is a high risk twin/vanishing twin/triploidy result?

I received a “High Risk” result, what do I do now?

I received a “Low Risk” result, what do I do now?

Will I be refunded for a “No Result”?

What is a partial result on Panorama?

If I received a “No Result”, why did it take 7-10 days to get a conclusion?

Is it possible to get “No Result” on Panorama?

I received a “No Result”, what do I do now?

What do Panorama results tell me?

How and when will I get my Panorama results?

Where can I get my blood drawn?

Is a physician signature required in order to do Panorama NIPT?

What is the cost of the test?

Is NIPT covered by Private insurance?

Is NIPT covered by Provincial insurance?

How do I order Panorama?

Is Panorama for every pregnant individual?

Is Panorama right for me?

Who is the Panorama test for?

Why pay for this when I get First Trimester Screening (FTS) / Maternal Serum Screen (MSS) covered? What does NIPT tell me that FTS/ MSS doesn’t?

What is the difference between maternal serum screening (eFTS, FTS, SIPS, IPS, quad screen) vs Panorama NIPT?

Are all NIPTs the same?

What is Negative Predictive Value (NPV) mean?

What does Positive Predictive Value (PPV) mean?

Why is early screening for microdeletions important?

Why test for microdeletions?

What microdeletions are screened using Panorama?

What are microdeletions?

Can NIPT be done for egg donor or surrogate pregnancies?

Can Panorama tell me if I am having identical or fraternal twins?

What is NIPT?

How does NIPT work?

When can I get Panorama done?

What does the NIPT test tell me? What answers do I get from it?

What are the detection rates for Panorama™?

What is the Basic Panorama Panel?

What is a trisomy? Monosomy?

Can Panorama be done for twin pregnancies?

I’m already pregnant. Should my partner and I get tested at the same time?

I’m planning multiple pregnancies. If the test increases the number of conditions it can detect or changes the screen in other ways, will I be eligible to receive an updated report? For my next pregnancy, will I need to take the test again to take advantages of test enhancements?

Will Expanded Carrier Screening definitively tell me whether I will have a healthy pregnancy and a healthy baby?

Does LifeLabs Genetics report variants? Incidental findings?

How are the WES results interpreted?

Do provincial healthcare plans reimburse for WES testing? How do I get funding for the WES test?

I’m unsure which test details to include in my order/requisition. Can I call LifeLabs Genetics for guidance? What are the best options for my condition/situation?

What does it mean to test positive for a genetic disease? Can I be cured? Will I pass genetic mutations on to my kids?

I want to know the list of diseases to which I am – or my offspring are – susceptible. Can this test help me to predict and improve my health and/or the health of my baby?

Do I need to book an appointment for genetic testing?

How much does genetic testing cost?

I don’t live in Canada. Can I still take a LifeLabs Genetics test?

Do I need a referral and requisition from my physician to take a genetics test?

Can I order a genetic test for my child?

Will the test finally give me a diagnosis?

Can I find out my ancestry from LifeLabs Genetics?

What is genetic testing?

How can I pay for a test?

How do I apply for provincial funding for a test?

Are the test costs covered by provincial healthcare insurance?

How does LifeLabs Genetics keep track of my sample?

How can I order a kit, or multiple kits?

I can’t make it to one of your Patient Service Centre labs. How do I provide a sample?

Can I view my family member’s results?

Are my personal health information and test results secure?

How are results provided?

Are there any time limits on getting my sample to LifeLabs Genetics? Do the forms, kits, or samples “expire”?

Can I use a courier or Canada Post to ship my sample?

Can I drop my sample off at your lab?

Answer

TreatGxPlus

TreatGxPlus is not currently available to order through LifeLabs due to operational constraints.  At this time we cannot confirm if and when the test will be offered again. 

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Hereditary Cancer

The LifeLabs Genetics BRCA1/2 test balances thoroughness with cost-effectiveness, speed, and usefulness and includes pre and post test genetic counselling. Our test focuses on two well understood and documented genes – BRCA1 and BRCA2 – to provide scientifically sound results with useful recommendations. An experienced, in-house geneticist and our genetic counsellors reviews family history details, interprets the test results, and makes recommendations on whether further testing is required. Combining test data and expert, objective interpretation with your physician’s knowledge of your goals and health status provides high quality, actionable insights.

An alternative to BRCA1/2 is an expanded gene panel (example: > looking at 20 genes at once) to flag any predisposition to cancer. LifeLabs genetics does offer expanded gene panels for hereditary cancer testing; however we believe that these type of panels are best ordered by genetic specialists in cancer genetics clinics after careful clinical assessment particularly when there is a complex medical and/or family history. These genetic specialists take into account important consideration, for example whetherexamining additional genes could reveal other genetic variants that might obscure definitive conclusions, results could possibly yield false-positives for extremely rare diseases, and results could indicate clinically insignificant risks due to limited research and current follow-up options.

Please contact us with any questions you may have.

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Hereditary Cancer

The CanadinaGovernment recently passed Bill S-201 (a Canndian equivalent to the U.S. Genetic Information Nondiscrimination Act (GINA)).  The bill states that it is unlawful to engage in genetic discrimination and prohibits companies requiring the disclosure of genetic testing results before providing goods or services or entering into a contract. LifeLabs Genetics never releases results to anyone other than the ordering physician. However, insurance companies categorize people according to the amount of risk they pose and charge different premiums based on those levels of risk. Insurance policy application forms may still include questions about your health, family history, age, occupation, etc. When those details are entered into an actuarial table, it may become evident that you are in a higher risk category based on your family history

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Hereditary Cancer

The LifeLabs Genetics test balances thoroughness with cost-effectiveness, speed, and usefulness. Our test focuses on two well understood and documented genes – BRCA 1 and BRCA 2 – to provide scientifically sound results with useful recommendations. An experienced, in-house geneticist reviews family history details, interprets the test results, and makes recommendations on whether further testing is required. Combining test data and expert, objective interpretation with your physician’s knowledge of your goals and health status provides high quality, actionable insights.

A competitor to our BRCA 1/2 test examines 27 genes to flag any predisposition to cancer; however, examining additional genes usually reveals numerous genetic variants that can obscure definitive conclusions, yield false-positives for extremely rare diseases, and indicate clinically insignificant risks. Based on our current understanding of genetics today, having more data to work with is not necessarily better — in some cases, additional data makes moving forward more confusing. The LifeLabs Genetics BRCA 1/2, as a screen, provides all the information that you need to know to move forward.

The LifeLabs Genetics BRCA 1/2 test package includes genetic counselling. Please contact us with any questions you may have.

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Hereditary Cancer

LifeLabs Genetics performs BRCA 1/2 testing basically in the same way as other types of hereditary conditions testing. We offer the following for BRCA1/2 analysis:

  • Next generation sequencing (NGS): sensitivity >98.5%, specificity >98.2%, 100% coverage >20x
  • Deletion/duplication via MLPA: sensitivity 99.9% and specificity 99.8%
  • Sanger sequencing and familial mutation testing also available

Genetic testing is often compared to visiting a bookstore or a library. Perhaps that comparison may shed light on which type of BRCA 1/2 test to order:

  • Sequencing looks at the entire gene, from beginning to end, to identify obvious and more subtle genetic mutations or variations. If a gene were a chapter in a book, sequencing could reveal a previously undetected, single-letter spelling mistake.
  • Deletion/duplication, or multiplex ligation-dependent probe amplification (MLPA), looks for “larger pieces” of missing genetic information or extra, duplicated portions of the gene. If a gene were a book chapter, deletion/duplication testing could find the missing paragraph or pages. Deletion/duplication testing could also flag where a paragraph has been erroneously added multiple times to a book.
  • Family mutation testing uses previously identified genetic mutations and familial hereditary patterns to pinpoint and examine a precise spot on a person’s genome. Family mutation testing confirms or rules out whether you have the same variation on the same gene as a family member. So, when comparing a gene to a book chapter, family mutation testing could find a specific quotation within the book. This type of testing is quite quick because you know exactly where in the book to look and do not have to read the whole chapter.

Genetic sequencing and deletion/duplication testing are normally ordered together for the most complete results.

Please speak with your physician and/or contact us if you have any questions about what to order.

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Known Mutations and Single Genes

The LifeLabs Genetics Search for a Test feature allows you to enter the disease, gene, or panel of interest to get pricing, sample kit, requisition forms, and other ordering details.

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Non-Invasive Prenatal Testing

Results for genetic testing like NIPT, regardless of how it was paid, will not be released directly to the patient as the test was ordered by a physician and the interpretation of results must be made in the context of other clinical information which may not be present in the test results alone.

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Non-Invasive Prenatal Testing

While the Panorama test has an option to include the sex of your baby, you cannot order only that information. 

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Non-Invasive Prenatal Testing

With single or multiple sample testing, fetal sex, and several microdeletion options, it can be challenging to pick the right version of the Panorama™ test. Yes, please speak with your physician and/or contact us for ordering assistance. Our Genetic Counsellors are available at 1-84-GENE-HELP (1844-363-4357) or by email at ask.Genetics@lifelabs.com.

Please note that the test is not appropriate for bone marrow or organ transplant patients.

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Non-Invasive Prenatal Testing

Studies* indicate that Panorama™ identifies Trisomy 21 (Down syndrome) and Trisomy 13 (Patau syndrome) with >99% sensitivity and false-positive rates of 0%, while another popular test reports sensitivities of, respectively, 79% and 50% with 5% and 0.3% false-positive rates.

Panorama™ has a >96% detection rate for Trisomy 18, with a false positive rate of <0.1%, while that same competing test has 80% sensitivity and a 0.3% false positive rate.

Panorama™ screens for Monosomy X (Turner syndrome), triploidy, fetal sex, and optional microdeletion syndromes while the other popular test does not screen for these conditions at all.

Panorama™ is the superior option.

*See http://www.panoramatest.com/panorama-test/clinical-information for the list of studies.

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Non-Invasive Prenatal Testing

Yes. Your physician needs to fill out our Change Authorization form [https://www.lifelabsgenetics.com/physician/forms-requisitions/].

Once we receive that, we can send the physician an amended report.

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Non-Invasive Prenatal Testing

Yes. Panorama™ is now appropriate for egg donors and surrogates.

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Non-Invasive Prenatal Testing

No. You can receive your results only from your physician.

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Non-Invasive Prenatal Testing

Contact us at http://lifelabsgenetics.com/contact-us/, and we can send a kit to you. The kit includes all paperwork and tubes required for you to get your sample drawn.

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Non-Invasive Prenatal Testing

Panorama™ is able to detect the following conditions caused by chromosomal anomalies:

  • Down syndrome: This is caused by an extra copy of chromosome 21 and is also known as trisomy 21. This is the most common genetic cause of intellectual disability and individuals with Down syndrome have some degree of intellectual disability and/or defects of the heart or other organs. Some have other medical conditions, including hearing or vision loss. Approximately 1 in 750 babies is born with this condition; many live into their 60s or longer.
  • Edwards syndrome: This is caused by an extra copy of chromosome 18 and is also known as trisomy 18. Most babies with trisomy 18 have severe intellectual disability and multiple severe birth defects. Poor growth during pregnancy is common and many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age. Approximately 1 in 3,000 babies is born with trisomy 18.
  • Patau syndrome: This is caused by an extra copy of the chromosome 13 and is also known as trisomy 13. Babies with this condition require significant medical care because they have severe intellectual disability and birth defects. Pregnancies diagnosed with trisomy 13 are at high risk for miscarriage or stillbirth. Similar to trisomy 18, of those babies born alive, most die before one year of age. Approximately 1 in 5,000 babies is born with trisomy 13.
  • Turner syndrome: This is caused by a missing copy of the X chromosome and is also called Monosomy X. The condition only affects girls. Individuals with Monosomy X are shorter than average and often have infertility as adults. Some girls have heart or kidney defects, hearing problems, and some have minor learning disabilities. Girls with Monosomy X may need growth hormone treatments in early childhood and usually need sex hormone treatments at the time of puberty. Approximately 1 in 5,000 girls are born with Monosomy X.
  • Triploidy: In triploidy, the fetus has 3 copies of each chromosome instead of two (a total of 69 chromosomes rather than 46). Approximately 1 in 100 conceptions are affected with triploidy. Most pregnancies with triploidy will miscarry in the early part of the first trimester, although later miscarriage or stillbirth can occur. The majority that survive die shortly after birth. Triploidy places the mother’s health at risk from pregnancy complications like pre-eclampsia, postpartum hemorrhage, and molar pregnancy with malignancy potential.

Microdeletions: When small pieces of genetic information are missing within a chromosome, they are called microdeletions. Microdeletions can affect health and development and occur in collectively 1 in 1000 pregnancies. The severity of the health impact is based on which chromosome information is missing.

  • 2 Deletion syndrome: The 22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is caused by a missing piece of chromosome number 22. About one in every 2,000 babies is born with the 22q11.2 deletion syndrome. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children with 22q.11.2 deletion syndrome have mild-to-moderate intellectual disability and speech delays; some will also have low calcium levels, kidney problems, feeding problems, and/or seizures. About 1 in 5 children with the 22q11.2 deletion syndrome have autism spectrum disorder; 1 in 4 adults with 22q11.2 deletion syndrome have a psychiatric illness, like schizophrenia.
  • Prader-Willi syndrome: Prader-Willi syndrome occurs when either a small piece of chromosome 15 is missing or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). Babies with Prader-Willi syndrome have low muscle tone and problems with growth and feeding. Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. About 1 in 10,000 babies are born with Prader-Willi syndrome.
  • Angelman syndrome: Angelman syndrome happens when either a small piece of chromosome 15 is missing, or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). About 1 in 12,000 babies is born with Angelman syndrome. Babies and children with Angelman syndrome have severe intellectual disability, delayed milestones, seizures, and problems with balance and walking.
  • 1p36 Deletion syndrome: 1p36 deletion syndrome, also referred to as Monosomy 1p36 syndrome, is caused by a missing piece of chromosome 1. Children with 1p36 deletion syndrome have intellectual disabilities. Most have heart defects and weak muscle tone. About half of affected individuals have seizures (epilepsy), behavioral problems, and hearing loss. Some children with 1p36 deletion syndrome also have vision problems or additional birth defects of other organs. About 1 in 5,000 newborn babies has 1p36 deletion syndrome.
  • Cri-du-chat syndrome: A missing piece of chromosome 5 causes Cri-du-chat syndrome, also called 5p- (5p minus) syndrome. The name “Cri-du-chat” was given to this syndrome due to the high-pitched, cat-like cry that babies with this syndrome often make. Babies with Cri-du-chat syndrome typically have low birth weight, a small head size, and weak muscle tone. Feeding and breathing problems are common. Children with this disorder have moderate-to-severe intellectual disability, including speech and language delays. They may also have growth delays, behavior problems, and some have curvature of the spine (scoliosis). About 1 in every 20,000 babies is born with Cri-du-chat syndrome.
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Non-Invasive Prenatal Testing

The post-test risk or risk after test is either resulted as a “high risk” or “low risk” and is an absolute risk value that is calculated based on the Panorama algorithm as well as the positive predictive value of the test based on the clinical experience data and validation studies.

A post-test “high risk” result is thus an indication of how likely the fetus is going to be affected for that particular condition.

A post-test “low risk” result is thus an indication of how likely the fetus is NOT affected with the condition.

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Non-Invasive Prenatal Testing

A high risk “twin/vanishing twin/triploidy” result means that the Panorama algorithm detected an extra DNA pattern in the sample.  This could mean a few different things: the pregnancy may be a twin pregnancy that you didn't know about yet, the pregnancy may have started as a twin pregnancy but one of the twins didn’t survive (also called vanishing twin) and rarely,  the pregnancy could be affected with a condition called triploidy where there is a whole extra set of chromosomes present. 

It is highly recommended to have a dating ultrasound prior to having the Panorama, not only for dating the pregnancy, but also to determine if there may be ongoing twins or possibility of a vanishing twin. In vanishing twin pregnancies, NIPT is not recommended. Alternate screening such as maternal serum testing or nuchal translucency ultrasound would be more appropriate. If there is a vanishing twin pregnancy, Panorama will not be able to provide a result and there will not be a refund option as this result could have clinical implications.

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Non-Invasive Prenatal Testing

A high risk result does not mean the baby definitely has a chromosomal anomaly; rather, it indicates a very high probability that your baby has that condition. No irreversible decisions should be made without follow-up diagnostic testing (CVS/amniocentesis). Please follow up with your healthcare providers about next steps. Again, LifeLabs Genetics is here to assist you and your healthcare provider along the way. For more resources regarding specific syndromes, please visit the following links:

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Non-Invasive Prenatal Testing

A low risk results indicates that it is very unlikely that your baby is affected by one of the conditions on the Panorama Panel selected. Although Panorama results are very accurate, routine monitoring of a pregnancy is still recommended, and your healthcare provider may recommend further testing depending on results of other prenatal tests and/or family history. Panorama is only a screening test, and although very infrequent, false negatives can occur.

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Non-Invasive Prenatal Testing

If Panorama is not able to get a result for the full panel of testing even after a redraw, you will be refunded-if you paid for the test.

If Panorama provides partial results, you will not be refunded.

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Non-Invasive Prenatal Testing

A partial result is when the Panorama provides a result for most of the conditions tested but is not able to provide a result for one (or more rarely, two conditions).  There are various reasons for this to happen, but is not common.  In these situations, your healthcare provider will be contacted by one of our board certified Genetic Counsellors to discuss the possible reasons why there was a partial result. Partial results are not eligible for refund.

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Non-Invasive Prenatal Testing

If Panorama provides a “no result” it still means that the full test was performed and unfortunately the Panorama algorithm was not able to yield a result (could be for various reasons, like low fetal fraction or the DNA pattern was not able to be interpreted) therefore it does take the same amount of time to come to this conclusion.

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Non-Invasive Prenatal Testing

There are many reasons why a “No Result” may occur on Panorama. Overall, 4-5% of cases may require a redraw and 65% of those cases will obtain a result on second attempt. No results may be due to an amount of fetal DNA in the sample that is below our testing cut off of 2.8% or there may have been some difficulties obtaining sufficient DNA or sequencing the DNA while it is processed in the laboratory. In many cases, the issue is sample specific and resolves with redraw. If you do not obtain a result after two attempts, the test cost will be refunded and one of our genetic counsellors will discuss recommendations for alternative screening with your care provider.

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Non-Invasive Prenatal Testing

In a small percentage of cases (4-5%), Panorama may not be able to obtain sufficient information from your blood sample to determine an accurate result. In some cases, another sample may help provide additional information, if this is the case, you will be contacted for another sample. In the majority of cases (> 65%) we will get a result with the redraw. In rare cases, if we are unable to provide any results from the Panorama screen upon a second attempt, one of our board certified genetic counsellors will contact your physician to further discuss. Please follow up with your healthcare provider prior to visiting one of our Patient Service Centres (PSCs) for a redraw.

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Non-Invasive Prenatal Testing

Panorama gives you a personalized probability score and tells you if there is a high or low probability that your pregnancy may be affected by screened conditions such as Down syndrome. Like other screening tests, Panorama does not provide a definitive diagnosis of the condition. As such, high risk results should be followed by diagnostic testing such as amniocentesis.

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Non-Invasive Prenatal Testing

Your healthcare provider will get your results back in 7-10 calendar days from receipt of your sample at our testing laboratory. As results will be sent directly to your healthcare provider for their review, we recommend that you schedule an appointment with your healthcare provider two weeks after your blood sample is collected to review the results. As always, LifeLabs Genetics is here to assist you and your healthcare provider along the way.

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Non-Invasive Prenatal Testing

If you are a resident of Ontario, Saskatchewan or British Columbia, your blood sample can be drawn at any one of our conveniently located LifeLabs Patient Service Centres (PSCs). Please visit https://locations.lifelabs.com to find the most accessible location for you. You must bring the Panorama requisition signed by a healthcare provider. Our staff cannot collect a blood sample without the correct requisition signed by a healthcare provider. To further reduce your wait times we recommend booking an appointment.

For individuals located outside Ontario, Saskatchewan and British Columbia, please contact us at 1-84-GENE-HELP (1844-363-4357) or by email at ask.Genetics@lifelabs.com for assistance in arranging sample collection.

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Non-Invasive Prenatal Testing

Yes. Print and bring the requisition that you received in the order email (or through our website) to your healthcare provider for signature. Requisitions not signed by a license healthcare provider cannot be processed and may not be able to be drawn. If you need assistance in finding a physician, please contact us at ask.Genetics@Lifelabs.com or by Phone: 1-84-GENE HELP (1-844-363-4357).

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Non-Invasive Prenatal Testing

The cost of Panorama NIPT is as follows:

Full Prenatal Panel: $795

Testing of chromosomes 21, 18, 13, X, Y, triploidy, 22q11.2 deletion, Cri-du-chat, 1p36 deletion, Angelman and Prader-Willi syndromes

Extended Prenatal Panel: $745

Testing of chromosomes 21, 18, 13, X, Y, triploidy, 22q11.2 deletion

Basic Prenatal Panel: $550

Testing of chromosomes 21, 18, 13, X, Y, triploidy

All panels have the option of finding out fetal sex at no additional cost.

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Non-Invasive Prenatal Testing

NIPT may be covered under some private healthcare insurance plans. Please check with your insurance provider before purchasing the test.

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Non-Invasive Prenatal Testing

In Ontario Criteria: Funding for NIPT is available in some provinces/territories for patients who meet high-risk specific criteria. Please speak to your healthcare provider to see if you qualify before purchasing the test. Alternatively, you can contact us at ask.Genetics@Lifelabs.com or by Phone: 1-84-GENE HELP (1-844-363-4357) for more information.

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Non-Invasive Prenatal Testing

Panorama can be directly ordered through our website www.lifelabsgenetics.com or at one of our many Patient Service Centres (PSCs). Please visit https://locations.lifelabs.com to find the most accessible location for you. If purchased online, you will receive your personalized requisition in the confirmation email after paying for the test online.  For further assistance in ordering Panorama, or for individuals located outside Ontario and British Columbia, please contact us as 1-84-GENE-HELP (1844-363-4357) or by email at ask.Genetics@lifelabs.com. You will need a requisition filled out by your healthcare provider, so be sure to discuss the test with your doctor.

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Non-Invasive Prenatal Testing

No. NIPT cannot be done for individuals with pregnancy involving vanishing twins, those who are bone marrow or organ transplant recipients, are carrying triplets or higher order multiples or individuals with twin pregnancies who conceived using an egg donor or surrogate. Other screening tools may be appropriate in these circumstances.

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Non-Invasive Prenatal Testing

The Society of Obstetricians and Gynaecologists of Canada (SOGC) and the Canadian College of Medical Geneticists (CCMG) published a joint statement recommending NIPT as a highly effective screening test for trisomies 21, 18, and 13; that should be offered as an option when discussing prenatal screening. Additionally, in a large study published by Panorama’s company of origin, Natera, Panorama was shown to be a highly effective screen in both high and low risk populations.

Panorama is a prenatal screening tool that can provide you with the most information about your baby’s health. By choosing Panorama, you are joining the over 2 million women that have chosen Panorama for trusted results.

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Non-Invasive Prenatal Testing

Panorama is for all pregnant women interested in knowing more about the health of their baby.

Provincial healthcare coverage may be available in certain provinces for the following indications:

  • 40 years of age or older at the time of delivery
  • Positive serum screen result
  • Nuchal translucency (NT) ≥ 3.5mm
  • Previous pregnancy with a chromosome abnormality

Panorama™ is also appropriate for women carrying twins, and women who have used a donor egg or a surrogate.

Panorama is not appropriate for women who have received a bone marrow or organ transplant.

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Non-Invasive Prenatal Testing

Panorama NIPT is a blood test that can be done as early as 9 weeks which measures cell free DNA (cfDNA) from the mom and the placenta.  It is Ministry of Health funded for some women (depending on provincial guidelines), but is also available as a private pay test.  The basic Panorama option screens for trisomy 21, 13, 18, monosomy X, triploidy and the sex chromosome trisomies.  Other conditions such as microdeletions and fetal sex are also available with NIPT. Some patients feel more comfortable with the better accuracy of the NIPT test compared to serum screens.  An NIPT test provides fewer false positive and false negative rates which is why some women choose to pay for this test. See also Q15.

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Non-Invasive Prenatal Testing

Maternal serum screening is a Ministry of Health funded screen for trisomy 21 and trisomy 18 (+/- neural tube defect). It involves a blood test(s) (with nuchal translucency ultrasound where available) and measures blood markers that are produced by the placenta and fetus.

Panorama NIPT is a blood test that can be done as early as 9 weeks which measures cell free DNA (cfDNA) from the mom and the placenta.  It is Ministry of Health funded for some women (depending on provincial guidelines), but is also available as a private pay test.  The basic Panorama option screens for trisomy 21, 13, 18, monosomy X, triploidy and the sex chromosome trisomies.  Fetal sex, as well as other conditions known as microdeletions, are also available. In addition, Panorama can typically provide results earlier in the pregnancy and provide information on more conditions than maternal serum screens.

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Non-Invasive Prenatal Testing

No, not all NIPTs are the same.  Here are the reasons Panorama is different:

  • Panorama is the only NIPT to differentiate between mom and baby. Since Panorama uses single nucleotide polymorphism (SNP) technology, the test is able to identify DNA from mom separately from the baby's DNA.
  • SNP-based NIPT has the least amount of false positives/false negatives because the test can detect confounding conditions such as:
    • Vanishing Twins
    • Triploidy

whereas other NIPT tests cannot detect these conditions.

Additionally,

  • Panorama is the only NIPT on the market with no incorrect sex calls in low risk pregnancies

And if you're having twins, Panorama can uniquely provide:

  • Zygosity information
  • Individual fetal fractions for dizygotic twins
  • Determine fetal sex of each twin
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Non-Invasive Prenatal Testing

“Negative predictive value” (NPV) is the chance that a low risk result  is correct and that the pregnancy is NOT affected with the conditions screened. With Panorama NIPT the NPVs for all the conditions are greater than 99.9%.

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Non-Invasive Prenatal Testing

"Positive predictive value” (PPV) is the chance that a high risk result is correct and that your pregnancy does in fact have the condition noted.  With Panorama NIPT the PPVs are as follows:

  • Trisomy 21: 91%
  • Trisomy 18: 93%
  • Trisomy 13: 38%
  • Monosomy X: 50%
  • Triploidy: 5.3%
  • Sex chromosome trisomies: 89%
  • 2 microdeletion syndrome (DiGeorge syndrome): 20%
  • 1p36 microdeletion syndrome: 7-17%
  • Angelman syndrome: 10%
  • Cri-du-chat syndrome: 2-5%
  • Prader-Willi syndrome: 5%"
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Non-Invasive Prenatal Testing

Certain types of microdeletions can cause health problems for the baby that may need immediate care. Currently, microdeletions and associated syndromes are not screened on routine pregnancy screening, and may not have ultrasound findings. Early screening through Panorama can guide the management of pregnancy or allow decisions for the delivery and special needs of your child.

Babies with 22q11.2 deletion syndrome (also known as DiGeorge syndrome), for example, may have a lower level of calcium in their blood. Prenatal screening can help ensure doctors know they need to monitor your child’s levels from birth and supplement as necessary to prevent complications.

Note: Microdeletions, like the other chromosome anomalies screened on this test, are present from conception and are not normally inherited by a parent or related to something you or your partner did or didn’t do.

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Non-Invasive Prenatal Testing

Detection: These conditions may often go undetected by traditional serum screening and ultrasounds.

Early intervention: Early screening can guide the management of the pregnancy or allow decisions such as delivery in a tertiary centre. For some of the conditions on the screen, early interventions can help reduce the risk of serious complications, as well as improve the health outcomes as the child continues to grow. Being prepared can provide the opportunity to plan for future medical needs such as surgery, medication, occupational therapy, physical therapy and special education.

Frequency of occurrence

Unlike Down syndrome, which occurs more frequently in mothers who are 35 and older, microdeletions occur in pregnancies at the same rate for mothers of any age. A 20-year-old has the same risk as a 45-year-old. Additionally, in most microdeletion cases, there is no previous family history as these chromosomal deletions typically occur by chance in the sperm or egg, leading to conception.

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Non-Invasive Prenatal Testing

Due to the unique test methodology, Panorama screens for the five microdeletion syndromes associated with serious health issues:

  • 2 deletion - DiGeorge syndrome
  • Prader-Willi syndrome
  • Angelman syndrome
  • Cri-du-chat syndrome
  • 1p36 deletion syndrome

You can choose to screen for the most common microdeletion, which is the 22q11.2 microdeletion, also known as DiGeorge syndrome. Alternatively, you can choose the full panel and screen for all five microdeletions.

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Non-Invasive Prenatal Testing

A microdeletion is a small, missing piece of a chromosome. Some microdeletions are known to cause specific genetic syndromes with major health impacts to the baby—including intellectual disabilities and other health implications which can include heart and breathing issues, immune system problems, trouble feeding, or other problems that may need immediate care upon birth.

Unlike Down syndrome, which occurs more frequently in mothers who are 35 and older, microdeletions occur in pregnancies at the same rate for mothers of any age. When considering age and pregnancy together, the likelihood of a woman under the age of 28 having a child with a microdeletion syndrome is higher than Down syndrome (trisomy 21).

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Non-Invasive Prenatal Testing

Yes, Panorama can be ordered for the following conditions in donor/surrogate singleton pregnancies:

  • Genetic anomalies such as Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome)
  • Sex (optional)*
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Non-Invasive Prenatal Testing

Yes, Panorama will be able to inform you if the twin pregnancy is dizygotic (fraternal twins) or monozygotic (identical twins). Panorama can also tell you the sex of each twin. The fetal fraction (amount of DNA in the sample that is from the pregnancy vs maternal DNA) needs to be at least 2.8% in one of the twins to determine this.

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Non-Invasive Prenatal Testing

Non-invasive prenatal testing (NIPT) is a screening test done in pregnancy. It uses a blood sample from the mother to analyze DNA from the placenta which allows us to screen for conditions that could affect a baby’s health.

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Non-Invasive Prenatal Testing

There is always genetic material (cell-free DNA) floating in our bloodstreams. When an individual is pregnant, pieces of genetic information from the placenta (cell-free fetal DNA) are released into their bloodstream and mix with their own genetic information. NIPT tests the mixture of DNA to determine if there is a high or low risk that the baby has certain chromosome anomalies. Fetal fraction, or the proportion of DNA in the blood sample that comes from the placenta, can affect the accuracy of an NIPT test.

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Non-Invasive Prenatal Testing

Panorama can be done as early as 9 weeks of pregnancy.

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Non-Invasive Prenatal Testing

NIPT screens for:

Singleton Pregnancy

  • Genetic abnormalities such as:
    • Trisomy 21 (Down syndrome)
    • Trisomy 18 (Edward syndrome)
    • Trisomy 13 (Patau syndrome)
    • Monosomy X (Turner syndrome)
    • Trisomy X
    • XXY (Kleinfelter syndrome)
    • XYY (Jacob syndrome)
    • Triploidy
  • Can identify your baby’s sex (optional)*
  • Optional Microdeletions:
    • 2 deletion - DiGeorge syndrome
    • Prader-Willi syndrome
    • Angelman syndrome
    • Cri-du-chat syndrome
    • 1p36 deletion syndrome

Twin Pregnancy

  • Identical or Fraternal twins
  • Genetic abnormalities such as:
    • Trisomy 21 (Down syndrome)
    • Trisomy 18 (Edward syndrome)
    • Trisomy 13 (Patau syndrome)
  • Can identify each baby’s sex (optional)*

If screen determines twins to be identical, Panorama can additionally screen for:

  • Monosomy X (Turner syndrome)
  • Trisomy X (Triple X syndrome)
  • XXY (Kleinfelter syndrome)
  • XYY (Jacob syndrome)
  • 2 (DiGeorge syndrome) optional*
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Non-Invasive Prenatal Testing

Detection rates are listed below:

Condition

Sensitivity (detection rate)

Trisomy 21 (Down syndrome)   

>99%

Trisomy 18 (Edwards syndrome)              

98.2%

Trisomy 13 (Patau syndrome)

>99%

Monosomy X (Turner syndrome)

94.7%

Triploidy/vanishing twin detection

>99%

Male or Female

>99%

Microdeletion syndromes (e.g., Angelman, Cri-du-chat, DiGeorge, Prader-Willi)

90.0%

 While it is not the intent of the test, the baby’s sex information can also be identified using Panorama™.

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Non-Invasive Prenatal Testing

The Basic Panorama Panel screens for trisomy 21, 13, 18, monosomy X, triploidy and sex chromosome trisomies. Patients also have the option of finding out fetal sex as well.

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Non-Invasive Prenatal Testing

An extra copy of any one chromosome - 3 copes instead of 2 - is called a trisomy (tri-meaning “three”). A missing copy of any chromosome - 1 copy instead of 2 - is called a monosomy (mono-meaning “one”).

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Non-Invasive Prenatal Testing

Yes, Panorama can be done in twin pregnancies, as well as pregnancies conceived with an egg donor or surrogate pregnancies.  Panorama can NOT be done in higher order multiple pregnancies (e.g. triplets, quadruplets, etc.) and can NOT be done in twin pregnancies conceived by an egg donor or surrogate.  Some conditions may not be able to be screened for in twin pregnancies (e.g. triploidy, monosomy X, some microdeletion syndromes).

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Expanded Carrier Screening

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.

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Expanded Carrier Screening

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.

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Expanded Carrier Screening

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 288 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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Whole Exome Sequencing

All disease-causing variants relating to the phenotype reported in HGMD®, ClinVar and CentoMD® (classes 1 and 2), as well as all variants with minor allele frequency of less than 1% in the ExAC database are considered in the medical interpretation. Class 1, 2, and 3 variants are evaluated. Variants that possibly impair the protein sequence are prioritized. All relevant inheritance patterns are considered based on the family history and clinical information submitted with the sample(s). CENTOGENE continuously assesses variants as new information becomes available internally and in the medical literature. When familial studies are recommended, familial variant testing is available for a small fee.

LifeLabs Genetics and CENTOGENE adhere to the “ACMG Recommendations for Reporting of Incidental Findings” and will not report on incidental findings that are not listed in these guidelines. However, it does mean that we will report variants detected in certain genes or classes of genes that are outlined in these recommendations as being medically actionable. Patients who prefer not to receive this information in their report, can opt out of this service. In case of Trio analyses, incidental findings are only analysed for the index patient. Carrier information of the parents for identified incidental findings of the index can be requested with new consent from the parents. Findings will be issued on individual reports. Incidental findings are not reported for fetal samples or samples from deceased persons.

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Whole Exome Sequencing

When you purchase a WES package from LifeLabs Genetics, you get sequencing of all exons, end-to-end bioinformatics analysis of raw data, validation or sequencing results, extensive and detailed reports, and access to the raw data. Each WES diagnostic report is validated by CENTOGENE’s team of renowned and experienced clinical specialists and cross-referenced against any family information provided as well as the CentoMD® mutation database. LifeLabs Genetics’ counsellors will also review, interpret, and speak with your physician when unexpected results are found.

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Whole Exome Sequencing

Depending on your province of residence, ministry of health coverage could be available. It is always best to first discuss this type of funding with your physician—a referral to a genetics (or other) specialist may be required.

In some provinces, WES test costs are reimbursed only when ordered by a qualified geneticist. This is usually the case in Ontario, for example. Once the geneticist gains approval via a Ministry of Health and Long-Term Care letter, he/she can attach the Ministry’s approval letter to the requisition.

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Whole Exome Sequencing

With different coverage depth, analysis types, turnaround time, and sampling (trio vs. single) options, it can be challenging to pick the right version of the WES test for you. Yes, please speak with your physician and/or contact us for ordering assistance to increase your chances of obtaining the specific information that you are looking for.

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Whole Genome Sequencing

Genetic testing identifies whether you have a specific genetic mutation. It can also predict the likelihood of you passing on a disease-causing mutation to your children.

A positive result does not a guarantee that you, or your children, will develop a genetic disease. Other health, lifestyle, environmental, and genetic factors may play a role in influencing whether, or how, the disease develops.

We do know that, at this point, the vast majority of genetic diseases cannot be cured. However, depending on what the disease is, interesting and helpful options to prevent and manage genetic disease are emerging daily.

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Whole Genome Sequencing

The WGS test is intended for individuals with serious, legitimate medical concerns, especially those who need a speedy diagnosis for a rare disease.

The WGS test can provide so much information that it can be overwhelming – sometimes the information can even be contradictory given our current understanding of the human genome. It is a medical-grade test that is really most valuable when a physician or genetic specialist is looking to understand more about a specific, unusual disease or condition. Please contact us to determine whether LifeLabs Genetics offers a genetic test that fulfils your needs.

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Genetic Testing and Counselling

No. You can go to any LifeLabs Patient Service Centre and have the sample drawn with or without an appointment. Self-collection is available for some tests (e.g., Counsyl).

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Genetic Testing and Counselling

There are many different genetic tests available. Please discuss with your physician which test is appropriate for you. Visit our website at http://lifelabsgenetics.com/genetics-search to search for the test you are taking, and there you will find pricing, turnaround times, requisitions, and consent forms.

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Genetic Testing and Counselling

No, unfortunately not. LifeLabs Genetics has obtained certifications and licenses for Canadian laboratory testing only. If you would like to contact us, we can provide testing suggestions for your country of residence.

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Genetic Testing and Counselling

Yes. LifeLabs Genetics provides clinical, medical-grade genetic testing. We conduct tests only under the guidance of a healthcare provider. For any genetic test ordered at LifeLabs, we require a physician to complete and sign a requisition.

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Genetic Testing and Counselling

There are no age limits on genetic testing. However, we do not recommend predictive genetic testing (e.g., BRCA 1/2) for children unless advised by your physician. Children should be given the right to make a decision about whether they want to find out their risks and illness susceptibility when they come of age. Many genetic illnesses have no known cure, and knowing too much may have impacts on their life choices. If possible, delay discussions about genetic testing until the child comes of age.

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Genetic Testing and Counselling

No genetic test can provide a definitive diagnosis on its own. Test results must be interpreted in the context of your entire health status and history.

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Genetic Testing and Counselling

No. LifeLabs Genetics provides clinical, medical-grade genetic testing to assist with the diagnosis, treatment, prevention, and prediction of genetic diseases.

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Genetic Testing and Counselling

Genetic testing extracts and analyzes DNA from blood, saliva, cheek cells, or tissue samples in a laboratory setting to look for gene variations, mutations, duplications, and deletions that may cause diseases. Comparing a patient’s unique genetic composition to that of a family member, a spouse/partner, or to a database can help healthcare providers to diagnose, predict, and treat inherited conditions in a patient or his/her offspring.

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Payment

All tests are available on a private-pay basis. You can purchase a test:

  • Through this website, with a credit card (i.e., VISA or MasterCard).

  • For residents of Ontario and BC, at a LifeLabs Patient Service Centre, with cash, debit, cheque, VISA, or MasterCard.

  • For those outside of Ontario and BC, with a payment form (see the specific test page for details) and a credit card.

Depending on your situation and province of residence, you may be eligible for provincial healthcare insurance coverage.

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Payment

Your healthcare provider(s) must complete a specific funding application form, send it to the ministry of health for your province, wait for a response (letter) from the ministry and, if approved, must attach a copy of that approval to the requisition form.

*Please note, not all genetic testing is eligible for provincial funding.

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Payment

Depending on your situation, the test, and your province of residence, you may be eligible for provincial healthcare insurance coverage. Please visit a specific test page for details or contact us.

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Appointments and Sample Collection

LifeLabs has a computer system that creates a unique patient identifier, usually based on your health card number. Once your sample is received at our lab or Patient Service Centre, we attach barcode stickers with this unique identifier to all paperwork and tubes/vials. This unique identifier can also be used to cross-reference test samples from your family members, if you have ordered a test that analyzes their samples as well. Barcode scanning ensures your name, specimen, and results are accurately matched through the entire testing process.

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Appointments and Sample Collection

Generally speaking, healthcare providers and clinics do most of the kit ordering. Click here for details.

We can provide kits directly to patients for certain tests. Contact us for details.

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Appointments and Sample Collection

You or your healthcare provider can order a kit for sample collection. Some kits enable self-collection, but most require professional assistance. With a kit, your healthcare provider can draw/take the sample for you or perhaps make arrangements at a nearby lab. For certain tests (e.g., Counsyl and Panorama™), LifeLabs Genetics has made arrangements with third-party labs in other provinces, such as:

  • Quebec – Biron Laboratoire Médical
  • Manitoba – Diagnostic Services Manitoba (DSM)
  • Alberta – DynaLIFE and Calgary Lab Services

Contact us for a full list of alternative labs/collection centres.
All kits submitted to LifeLabs Genetics must include a requisition form signed by your healthcare provider.

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Privacy and Security

No, not without permission from the patient. LifeLabs Genetics shares test results only with the physician who ordered the test (i.e., signed the requisition). Generally speaking, it is up to the patient, or his/her legal caregiver or guardian, to decide who has access to the results after the physician provides them.

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Privacy and Security

The privacy, security, and confidentiality of your personal information and biological samples are maintained at every step of the process. At LifeLabs, protecting the privacy and security of personal information is essential and is fundamental to our values and to the way we do business. Feel free to peruse the LifeLabs Privacy Statement for more information.

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Privacy and Security

When your results are ready, a LifeLabs team member will fax them to your physician. Alternatively, if there’s an online portal for the test you’ve taken, your physician will receive an email indicating that results are ready for viewing on the password-protected, secure online portal. Results are shared only with the ordering physician. We do not release results to patients or their family members.

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Shipping

Signed requisition forms should be used within six months. After six months, you may be asked to obtain another signed form. Genetic test kits, which includes paperwork and tubes/vials, have best before dates. For more accurate results, obtain a signed requisition, provide a sample in a fresh kit according to the instructions, and ensure the sample is shipped to the lab (with the signed paperwork) on the same day it is collected.

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Shipping

To ensure samples are handled with care, LifeLabs uses its proprietary, internal courier service to transport samples between Patient Service Centres and the lab. If you do not plan to visit a Patient Service Centre, we recommend FedEx, which is included in the cost of the test, if you use the LifeLabs FedEx account number. (Contact us to obtain the LifeLabs FedEx account number.)

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Shipping

Yes, if you have a signed requisition, consent form, and properly prepared kit, you may drop off the sample and forms to any LifeLabs Patient Service Centre

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To ensure we provide you with the correct information, please select your province.

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To ensure we provide you with the correct information, please select your province.
  • British Columbia
  • Ontario
  • Alberta
  • Manitoba
  • New Brunswick
  • Newfoundland and Labrador
  • Northwest Territories
  • Nova Scotia
  • Nunavut
  • Prince Edward Island
  • Quebec
  • Saskatchewan
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