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PreSENTIA Hereditary Familial Melanoma Panel

Known as: PreSENTIA Hereditary Familial Melanoma Panel
SKU: GEN-PreS015MG

Original price was: ₾2,050.00.Current price is: ₾1,537.50.

Research material: buccal mucosa smear
Response time (working day): 20
The test is done on an empty stomach: no
Home call service: Yes
Country: EU

General Information

Familial melanoma is a hereditary condition that increases the risk of developing melanoma in the future. Familial melanoma is caused by a gene mutation and is passed down from generation to generation.

The PreSENTIA Inherited Familial Melanoma Panel examines inherited mutations that may cause skin cancer in the future.

 

PreSENTIA Hereditary Familial Melanoma Panel

 

 

 

source

  • NCCN
  • Tsao H, Chin L, Garraway LA, Fisher DE. Melanoma: from mutations to medicine. Genes Dev. 2012 Jun 1;26(11):1131-55. doi: 10.1101/gad.191999.112. PMID: 22661227; PMCID: PMC3371404.
  • Zocchi L, Lontano A, Merli M, Dika E, Nagore E, Quaglino P, Puig S, Ribero S. Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspects, Associated Malignancies and Practical Tips for Management. J Clin Med. 2021 Aug 23;10(16):3760. doi: 10.3390/jcm10163760. PMID: 34442055; PMCID: PMC8397216.

genes

BAP1, BRCA2, CDK4, CDKN2A (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), PTEN, RB1, TP53

 

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–Hein a laboratory with international accreditation.

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How many genes does the panel test for?

The PreSENTIA Hereditary Familial Melanoma Panel Tests 7 Genes

 

 

 

When should we take the test?

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

  • Personal history of melanoma diagnosed at an early age
  • Melanoma diagnosed at an early age in a family member
  • A mutation diagnosed in a family member associated with melanoma
  • At least two first-degree relatives diagnosed with melanoma metastases

Possible interpretation of the results

  • Sample: Buccal mucosal swab.
  • Response time:  20 working days.
  • Laboratory: The test is being conducted. Medicover Geneticsin an internationally accredited laboratory

Panel-associated syndromes

  • BAP1 mutation-associated disease (BAP1)
  • Hereditary pancreatic melanoma syndrome (CDKN2A, CDK4)
  • Li-Fraumeni syndrome (TP53)
  • PTEN hamartoma syndrome (PTEN)
  • Retinoblastoma (RB1)

 

Reference values

Of useInstruction

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

Securitysizes

  • 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 productContents

PatternCollectible Device: One (1) buccal swab collection device.

PackagingMaterials: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

PatternCollectionInstruction

  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.

importantInformation

  • 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 60 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.

orderdetailsდაSupport

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

 

 

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This medical information is not intended to be a universal treatment guide for all patients. The treatment process, including the type, volume, and frequency of diagnostic tests and therapeutic procedures, is determined by the physician individually — based on an assessment of the patient's condition and relevant medical indications. The decision is made in consultation with the patient. Before purchasing a test, please read the instructions for its preparation.
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