Whole Exome Sequencing | Lifelabs

Most relevant in cases with heterogeneous or atypical phenotypes, whole-exome sequencing (WES) combines next-generation sequencing methods with powerful bioinformatics to identify and interpret changes in the protein-coding regions, or exons, of most genes in a single test. WES increases the chances of diagnosing complex genetic disorders and getting to the root cause of disease, faster.

Who Is This For?

 

Atypical or complex findings that may represent a new or rare syndrome 

 

A suspected genetic disorder where the previous testing has been uninformative. Medical answers are likely available only by sequencing the whole exome. Heterogeneous phenotypes, such conditions as:

 

• Epilepsy
• Neurodevelopmental disorders
• Bone diseases
• Metabolic disorders
• Cardiomyopathy
• Complex dysmorphism
• Severe Combined Immunodeficiency (SCID)
• Immunological disorders
• Dementia
• Metabolic disorders
• Autism
• Blindness

 

This test does not identify your ancestry. It is not recommended as a wellness screen, nor as a test to determine conditions for which you or your offspring may be susceptible to.

TIMING: 

 

• Standard, high quality, service turnaround time is 6 weeks
• Prenatal, express service turnaround time is 3 weeks
• Timing estimates do not include the time required for physician appointments, requisitions, consent signatures, sample collection, or courier/shipping times (samples are analyzed in Germany)
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TEST SPECIFICS:

 

• The test can be ordered for the proband only (singleton) or with parental and/or other family members (trio)
• Utilizes the Twist Core Exome Plus kit (~36.5mb)
• >98% of targeted bases covered at >20x (>99.5% of the CCDS regions), including +/-20bp exon-intron boundaries
• >99.6% technical sensitivity and >99.8 technical specificity
• CNV analyses by NGS included
• Mitochondrial analyses available as add-ons
• Raw data (.fastq, .bam, or .vcf file formats) and research report available
• Opt-out option available for incidental findings
•  Incidental findings are only reported in the proband

 

Reports are sent to physicians only. LifeLabs Genetics will not share results directly with patients. The ordering physician will receive an email when results become available. Results are never shared via email; results will be made available on the CENTOGENE portal for viewing and downloading.

REPORTS & RESULTS:

 

Results documentation includes the following:

 

• Test type, date, methodology, result, and interpretation
• Positive result: Indicates a genetic variant was identified in a specific gene and that variant is pathogenic or likely pathogenic (highly likely to be causal of the disease-related condition).
• Uncertain result: Sometimes, gene variants are proven but their significance is not clear. This is stated in the results and discussed with you by your physician. This category of variant is not reported for fetal samples or samples from deceased persons.
• Negative result: If no disease-causing variant is found, genetic changes responsible for the disease or a tendency to have a disease may still exist and cannot usually be fully excluded.
• Opt-out option available for incidental findings
•  Incidental findings are only reported in the proband

Mobile Lab Services By Lifelabs | Who is Eligible?

We know not everyone is able to come to one of our Patient Service Centres, so our fleet of mobile services is ready to come to you. Serving thousands of patients every year in their home, or working in partnership with healthcare facilities, retirement homes, and businesses, our mobile lab collection team has a range of services to make lab tests simple and convenient. Our in-home blood collection and specimen pick-up service are available to patients in select provinces who meet certain criteria at the request of a physician.

 

You are eligible for in-home collection and specimen pick up if you reside in a long-term care facility or if are unable to leave your home due to:

 

• physical immobility
• physical/mental hardship and/or pain
• public health risk of spreading communicable diseases such as rubella or chickenpox
  

 

Individuals are not eligible if they are:

 

• able to drive a motor vehicle
• able to arrange transportation for shopping, banking, or other activities
• able and/or have returned to work

How to Arrange an In-Home Lab Visit?

 

Requests for home blood collection and specimen pick up must be made by your healthcare provider. Only requests from physicians and healthcare providers are accepted and any changes to the lab requisition must come from the physician that placed the order. Requests for services from patients or family members will not be accepted.

What is the Cost?

 

For qualifying individuals, there is a nominal fee for physician requested in-home lab service. We are also pleased to offer mobile lab services for long-term care residences and retirement homes. 

How Long Can Service be Booked for?

 

Lifelabs home lab services may be ordered for a maximum of six months at a time. The service will automatically expire at the end of the duration stated in the physician order, or after six months. Service will also expire should you no longer meet the eligibility criteria. Please note that we are unable to request a renewal on a patient’s behalf.

Colorectal Cancer Screening | Lifelabs

Healthcare providers have been encouraged to start with targeted screening for groups at the highest risk of cancer. Routine cancer screening is starting up slowly to keep you and healthcare staff safe, and to help stop the spread of COVID-19. The gradual reintroduction of routine cancer screening is consistent with the Ministry of Health’s directions to gradually start offering services that have been delayed because of COVID-19.

FIT is the recommended screening test for people at average risk* of getting colon cancer in Ontario. FIT is available across the province through Cancer Care Ontario’s organized colon cancer screening program, ColonCancerCheck. FIT is a safe and painless cancer screening test that can be done at home and only takes a few minutes. FIT checks someone’s stool (poop) for tiny amounts of blood, which could be caused by colon cancer and some pre-cancerous polyps (growths in the colon or rectum that can turn into cancer over time).

FIT has many advantages, such as:

 

• It is user-friendly and reduces contact with stool
• You only need to collect one stool sample
• You can eat and take your medications as usual

People at average risk of colon cancer should be screened with FIT every two years. A person is at average risk if they are 50 to 74 years old with no first-degree relative (parent, brother, sister, child) who has been diagnosed with colon cancer.

You can discuss your eligibility for a ColonCancerCheck FIT with your family doctor or nurse practitioner. If you are eligible for a FIT, the test will be ordered for you and LifeLabs will then mail a FIT package to your Ontario mailing address of choice.

 

• If you do not have a family doctor or nurse practitioner, please call Telehealth Ontario at 1-866-828-9213.
• If you are in the North West region or the Hamilton, Niagara, Haldimand Brant region you can visit a mobile screening coach to discuss your eligibility for FIT.
• If you live on a First Nation reserve, you can visit a health center or nursing station for more information.
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Your family doctor or nurse practitioner will get a copy of your test result from LifeLabs. Cancer Care Ontario will also mail you a letter with your test result a few weeks after you have returned your completed FIT.

 

How do I return my completed fecal immunochemical test (FIT) sample?

 

It is important to return your completed FIT as soon as possible (within 2 days of taking your sample).

 

• You can mail your completed FIT using the pre-paid yellow return envelope provided in the FIT package.
• You can also drop it off at a LifeLabs Patient Service center – visit the LifeLabs Location Finder (locations.lifelabs.com) for drop-off locations and hours.
• If you live on a First Nations reserve, please contact your health center or nursing station to discuss drop off options.
• If you have questions about how to return your completed FIT, call LifeLabs at 1-833-676-1426

Prostate Cancer | SelectMDx Testing | Lifelabs

Prostate-specific antigen (PSA) is a protein produced within the prostate gland. PSA is mostly found in semen, but small amounts can also be found in the blood of healthy men. PSA levels naturally increase as men age because the prostate naturally enlarges over time. There are many reasons why PSA levels fluctuate, and higher levels may indicate the presence of prostate cancer or other prostate conditions (inflammation).

 

Prostate cancer is the most common cancer to affect Canadian men. 

Typically slow-growing, prostate cancer can be present for many years before causing symptoms. Receiving news that you have an elevated PSA may be alarming, but it does not necessarily mean you require a biopsy or aggressive treatment. SelectMDx can help your physician determine whether you would benefit from a biopsy or simply require ongoing screening (active surveillance).

SelectMDx is a urine test that measures two cancer-related genetic biomarkers, HOXC6 and DLX1. Combined with other clinical factors like total PSA and age, the test produces a likelihood score of discovering clinically significant disease (defined as Gleason Score equal to or more than 7 [3+4 and 4+3]). 

This provides your urologist with another important piece of information to consider when recommending whether a biopsy is required and potentially avoid unnecessary procedures. The test has a very high negative predictive value, meaning that a low likelihood result is correct in the vast majority of men (Negative Predictive Value (NPV) of 98% for clinically significant cancer).

SelectMDx is recommended if a Prostate-Specific Antigen (PSA) test result has revealed PSA levels increased to between 4 – 10 ng/ml and/or you have had an abnormal digital rectal exam.

Process of Testing: SelectMDx is a two-part process for urine sample collection. First, your physician must conduct a prostatic message (via a digital rectal exam; DRE) to slough off cells from your prostate. Following this, you must provide a urine sample that is generally collected in your urologist’s office and delivered the same day to a LifeLabs Patient Service Centre along with a requisition completed by your physician.

Test results will be provided directly to your healthcare provider by Lifelabs for discussion with you. The report will indicate the likelihood of prostate cancer (and clinically significant disease) upon biopsy.