Counsyl Family Prep Screen

Introduction

The Counsyl Family Prep Screen is a genetic screening test which can detect a person’s carrier status for over 100 different hereditary conditions. Most of us are carriers of a handful (8-10) of genetic diseases that do not impact our everyday lives. However, these conditions can be passed unknowingly to a child. When both parents are carriers, this inheritance pattern is known as autosomal recessive. If both members of a couple are carriers of the same condition, they have a 25% chance with each pregnancy to have a child affected with that condition. Autosomal recessive conditions vary in severity:

  • Several of the conditions on the Counsyl Family Prep Screen can be treated early in life, like Wilson disease and PKU
  • Some result in intellectual disabilities, as with Fragile X syndrome and Niemann-Pick disease
  • Others are chronic conditions and require lifelong management, such as Cystic Fibrosis and Bloom syndrome
  • Finally, some have no treatments available, including spinal muscular atrophy and Canavan disease

Access to such valuable information before or early in pregnancy gives people time to make choices in planning their family.

Test Options:

Test Conditions tested Mutations tested Results Price
Family Prep Screen 2.0 102 Next Generation Sequencing technology to perform the full sequencing of the entire coding region of the genes Within 3 weeks $995
Partner screening Family Prep Screen 2.0 test for the partner of a person who has already been tested or is undergoing testing Within 3 weeks $795

Informational Materials

Info sheet
Full list of diseases screened

Disease specific information
Patient pamphlet
Healthcare provider aid
Validation data for 2.0 test
ESHG poster 2015
Introductory video
Patient testimonials
Sample report: individual 
Sample report: couple 

How to Order

This test must be ordered by a physician. To order the Counsyl Family Prep Screen for your patient, please follow the steps below.

  1. Download and complete the requisition & consent forms
    • LifeLabs Requisition, to be completed by the physician
      • Please clearly complete the requisition whether it will be a first time order  or the partner of a patient who has already been tested
    • Patient Consent Form, to be retained by physician in medical chart
    • One requisition is required per patient tested

    Send the patient to have their blood sample drawn

    • Patient has their blood drawn at any LifeLabs, CML Healthcare of BC Biomedical collection centre 
      Self-collection saliva kits are available nationally. Please contact us for more information.
      Watch this video which explains how to properly collect a saliva sample


      Ontario and British Columbia:

      • Patient has their blood drawn at any LifeLabs, CML Healthcare of BC Biomedical collection centre
      • Appointments can be made for blood collection
      • Patient pays for the test at the time of blood collection (credit card or debit)

      All Other Provinces: Please contact us for ordering details

    Manitoba

    • Patients can visit one of the following Diagnostic Services Manitoba (DSM) locations with their completed requisition and test payment form
    • Must complete the requisition (see above), the payment form and the DSM Third Party requisition
    • Visit one of the following locations (no appointments required):
      Health Sciences Center – 820 Sherbrook Street, Winnipeg MB
      St. Boniface Hospital – 409 Tache Ave, Winnipeg MB
      Grace General Hospital – 300 Booth Drive, Winnipeg MB
      Seven Oaks General Hospital– 2300 McPhillips St, Winnipeg MB
      Victoria General Hospital– 2340 Pembina Hwy, Winnipeg MB
      Westman Regional Lab – # 1-150 McTavish Ave E, Brandon, MB

    Alberta

    • Patients can visit any DynaLife or Calgary Lab Services location with their completed requisition and test payment form
    • Must complete the requisition (see above), the payment form and the appropriate Third Party requisition:
      • DynaLife Third Party requisition (contact 1-877-702-4486 for an appointment)
      • Calgary Lab Services Third Party requisition (contact 1-403-770-5146 for an appointment)
  2. Receive results by fax within 2 to 3 weeks and provide to patient

All patients have access to a post-test counselling session with a certified genetic counsellor

  • Patient uses the barcode number on their report to create an online account with Counsyl
  • Patient views result specific educational videos online
  • Patient schedules an appointment for genetic counselling through their online Counsyl account
  • Patient speaks with one of Counsyl’s certified genetic counsellors (phone or video session)
  • Healthcare provider receives a summary letter of the genetic counselling session

Provincial Funding

Some provincial health plans may cover the cost of Counsyl, so speak with your health care provider or contact LifeLabs Genetics. Examples of when Counsyl has been covered by provincial health plans, include (but are not limited to): limited family history (ex: adopted), individuals whose partner is a carrier of a condition on the Counsyl panel, individuals of Ashkenazi Jewish descent, consanguineous couples (ie: biologically related).
– Ontario MOHLTC application form
– Ontario MOHLTC funded requisition (must have approval number written on requisition, top right box)

As well, some personal medical insurance plans may cover the cost of the test. Check with your carrier.
Otherwise, you are responsible for the cost of the test and will provide payment to LifeLabs, who in turn will provide payment to Counsyl if applicable. Canadian clients are not to use the online order process through Counsyl.

What is Carrier Screening

We all have two copies of every gene. To develop symptoms of some genetic conditions, a person needs to have a mutation or change in both copies of the same gene. This type of inheritance is called autosomal recessive. Each of us has a genetic mutation or change in about 8-10 different genes. When a person has a mutation in one copy of a recessive gene, they are called a carrier. Carriers normally do not develop symptoms of the condition. A screen is able to detect many, but not all, carriers of a disease.

Who Should be Screened

Physician societies (the American College of Medical Genetics and the American College of Obstetrics and Gynecology) recommend that all pregnant women or anyone planning a pregnancy be offered carrier screening, and have published a joint statement to that effect (read the press release or Counsyl’s summary). Counsyl provides a simple screening panel that ensures the most comprehensive analysis for all individuals of any ethnic background. Couples can choose to screen both partners simultaneously, which allows for more comprehensive results faster.

Even without a family history of a disease, a patient can still be a carrier. When two people are carriers of the same disease, they are at a 25% risk of having a child with life-long health issues. In fact, 4 out of 5 children with recessive genetic diseases are born to couples with no known family history of that disease. This test is also useful for people who are adopted and unaware of their family history, but would like to know if their future children are at increased risk for specific diseases.

Value of Testing

The test looks at genetic mutations  to provide a comprehensive risk analysis for over 100 inherited genetic diseases.

  • Disease list categories:
    • 78 have limited or no treatment options
    • 59 lead to shortened life expectancy
    • 45 carry a risk for intellectual disability
    • 59 improve with early intervention
  • 40% of individuals screen positive for one or more conditions on the Counsyl Familiy Prep Screen 2.0 test
  • 3% of all couples screened test positive for the same condition on the Counsyl Family Prep Screen 2.0 test
  • Includes online or over the phone genetic counselling by a certified genetic counsellor who provides counselling to the patient and creates a summary document which is sent directly to the ordering physician by fax. Genetic counsellors are available to help support both the ordering physician and the patient