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
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:
- One (1) barcode card with two (2) labels
- Sample Entry Form (SIF)
- Informed Consent Form
PatternCollectionInstruction
- Fill out the sample collection form.
- Write the patient's full name on the barcode label and attach it to the cheek swab collection device.
- Using gloves, open the bag and remove the plastic tube.
- 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.
- 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.
- Place the swab in your mouth on your tongue and wet it with saliva for ten seconds.
- 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.
- Repeat the sequence of point 7 on the other side of the mouth.
- After taking the sample, put the swab back into the plastic tube and close it securely.
- Place the sample in a biosafety bag and seal it securely.
- Place the sealed bag in a buffered envelope.
- 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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