PreSENTIA Hereditary Colorectal Polyposis Syndrome Panel

General Information

Hereditary colorectal polyposis syndrome is a type of hereditary cancer characterized by the presence of polyps. Conditions such as familial adenomatous polyposis (FAP), MUTYH-associated polyposis syndrome, and others are characterized by the presence of polyps.

The PreSENTIA Hereditary Colorectal Polyposis Tumor Syndrome Panel examines inherited mutations that may cause colorectal cancer in the future.

Who is being researched?

If even one of the following criteria is present, it is necessary to conduct research:

• Personal history of colorectal cancer
• Personal or family history of colorectal polyps
• Personal or family history of other types of cancer
• Colorectal cancer early diagnostics (under age 50)
• Diagnosis of multiple primary tumors
• Familial adenomatous polyposis in first-degree relatives
• A total of more than 10 colorectal adenomas, or a combination of colorectal and other adenomas in familial adenomatous polyposis

How many genes does the panel test for?

The PreSENTIA Hereditary Colorectal Polyposis Tumor Syndrome Panel examines 7 genes

Panel-associated tumor syndromes

• Familial adenomatous polyposis / attenuated familial adenomatous polyposis (APC)
• Juvenile polyposis syndrome (SMAD4, BMPR1A)
• MUTYH-associated polyposis syndrome (MUTYH)
• Peutz-Jeghers syndrome (STK11)
• Proofreading polymerase-associated syndrome (POLD1, POLE)

source

• Kanth P, Grimmett J, Champine M, Burt R, Samadder NJ. Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management. Am J Gastroenterol. 2017 Oct;112(10):1509-1525. doi: 10.1038/ajg.2017.212. Epub 2017 Aug 8. PMID: 28786406.
• Stjepanovic N, Moreira L, Carneiro F, Balaguer F, Cervantes A, Balmaña J, Martinelli E; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnostics, treatment and follow-up†. Ann Oncol. 2019 Oct 1;30(10):1558-1571. doi: 10.1093/annonc/mdz233. PMID: 31378807.

genes

APC, BMPR1A, MUTYH, POLD1, POLE, SMAD4, STK11

Sampling for research will be done:

• In the regions: Thursday   
• In Tbilisi: Thursday and/or Friday (first half of the day)

Samples will be sent on Friday afternoon! For this, samples must be sent to the central laboratory by Friday 12:00.

The taken sample is sent and the research is conducted in the laboratory MEDICOVER Genetics– He in a laboratory with international accreditation.

Of the test Answers In Stock Pattern 20 after taking Work per day. Answer Will be forwarded Doctor's და Of the patient Email By mail. also  It is possible Admission on the ground Laboratory In the center.

Of need In the case of ""Synevo" Laboratory Offers Geneticist Consultation.  

Of use Instruction

The PreSENTIA Specimen Collection and Transport Kit is designed for the collection, transport, and storage of material required for hereditary cancer predisposition studies.

Security sizes

• For In Vitro Diagnostic Use.
• Buccal swab collection devices are intended for single use by one person.
• Store the kit at room temperature (15°C to 25°C). Properly stored kits are stable until the expiration date.
• Do not use an expired kit.
• Do not freeze collected samples.

Of the product Contents

Pattern Collectible Device: Two (2) buccal swab collection devices.

Packaging Materials: One (1) biosafety bag for sample sealing,

One (1) safety sticker.

Documentation:

1. One (1) barcode card with two (2) labels
2. Sample Entry Form (SIF)
3. Informed Consent Form

Pattern Collection Instruction

1. Fill out the sample collection form.
2. Write the patient's full name on the barcode label and attach it to the cheek swab collection device.
3. Using gloves, open the bag and remove the plastic tube.
4. To easily open the cap of the tube, hold the swab of the plastic tube with one hand and press the white cap with your thumb.
5. Hold the tampon by the handle (with the white cap), remove the tampon from the plastic tube, and place the tube on a clean surface.
6. Place the swab in your mouth on your tongue and wet it with saliva for ten seconds.
7. Move the swab on one side of the mouth between the cheek and gums in an up-down direction for 10 seconds. At the same time, massage the outside of the cheek with the other hand to increase the friction of the tampon with the mucous membrane.
8. Repeat the sequence of point 7 on the other side of the mouth.
9. After taking the sample, put the swab back into the plastic tube and close it securely.
10. Place the sample in a biosafety bag and seal it securely.
11. Place the sealed bag in a buffered envelope.
12. Remove the cover from the envelope's adhesive strip and seal the envelope.

important Information

• The buccal mucosa sample should be collected immediately after opening the package.
• Do not bend the swab with excessive force when collecting a patient sample, as this may cause the swab to break.
• For 30 minutes before sample collection, the patient is prohibited from: smoking, consuming food and fluids (except water), brushing teeth, and chewing gum.
• Please carefully follow the instructions for sample labeling, collection, and transportation.
• Verify all patient identification data for accuracy and compliance with requirements prior to sample packaging and transport.

order details და Support

For assistance or to order additional kits, please call +(995)32 2 800 111 or email us at info@synevo.ge. Additional information is available online at Synevo.ge