PreSENTIA Hereditary Colorectal Non-Polyposis Tumor Panel

General Information

Hereditary non-polyposis colorectal cancer is an autosomal dominant disorder that occurs more frequently in women and accounts for 1-4% of colorectal cancers.

Patients with hereditary non-polyposis colorectal cancer have no polyps or only a small number of them.

Hereditary non-polyposis colorectal cancer is associated with mutations in DNA damage repair genes, which lead to errors during DNA repair processes and, consequently, uncontrolled growth.

EPCAM is another gene that has been linked to the development of hereditary non-polyposis colorectal cancer. Large deletions in the gene result in reduced production of a DNA mismatch repair protein (MSH2), which increases the frequency of DNA errors and the likelihood of developing colorectal cancer.

The PreSENTIA Hereditary Non-Polyptic Colorectal Cancer Panel examines inherited mutations that may cause colorectal cancer in the future.

*DNA mismatch repair genes: MLH1, MSH2, MSH6 and PMS2

Who is the test for?

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

• Colorectal cancer diagnostics in early adulthood (<50 years of age)
• Diagnosed with Lynch syndrome.
• Lynch syndrome-associated tumors - regardless of age
• Cases of Lynch syndrome-associated tumors in close relatives
• Family history of cancer before age 50

How many genes does the profile examine?

The hereditary non-polyposis colorectal cancer panel examines 5 genes

Syndromes associated with the panel

• Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
• Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)

source

• Duraturo F, Liccardo R, De Rosa M, Izzo P. Genetics, diagnostics and treatment of Lynch syndrome: Old lessons and current challenges. Oncol Lett. 2019 Mar;17(3):3048-3054. doi: 10.3892/ol.2019.9945. Epub 2019 Jan 18. PMID: 30867733; PMCID: PMC6396136.
• Edwards, P. and Monahan, KJ, 2022. Diagnosis and management of Lynch syndrome. Frontline Gastroenterology, 13(e1), pp.e80-e87.
• Moller P, Seppala TT, Bernstein I, et al. Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the prospective Lynch syndrome database. Gut 2018; 67: 1306–1316.
• 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.

genes

EPCAM, MLH1, MSH2, MSH6, PMS2

For research Pattern Taking It will happen:

• In the regions: On Wednesday   
• In Tbilisi: On Wednesday or/და Thursday (Of the day first in half)

Samples Send Will be implemented On Thursdays, Of the day second Halfway! For this, Sample Sent Central in the laboratory Should To be sent  Thursday 12:00-till

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