Mutation Analysis

in the RET proto-oncogene

For germline/hereditary investigation of Familial Medullary Thyroid Carcinoma by the RET proto-oncogene

Identification of germline pathogenic mutations in the RET proto-oncogene can be used for the diagnosis and clinical assessment of risk, due to family history, or for the distinction between familial (hereditary) and sporadic cases of the disease.

RECOMMENDATION

● Patient diagnosed with Medullary Thyroid Cancer (MTC), for investigation of familial MTC.

● 1st or 2nd degree relatives of patients with CMT who have already identified mutations in the RET proto-oncogene.

SELF COLLECTION!

● We send a kit with a swab for oral scraping. The patient don´t have to go to a laboratory in order to perform the test.

Complete sequencing of the RET proto-oncogene by NGS, with careful analysis of all pathogenic mutations recognized by ATA.

Diagnostic and prognostic function

Understand the results:

Identification of pathogenic mutations in the RET proto-oncogene

Positive cases help in the follow-up of the patient and in the familial history investigation

Investigation of 1st and 2nd degree relatives helps in monitoring and/or prophylactic surgical treatment, depending on the mutation found.

What the guidelines say:

The ATA and the Brazilian Consensus recommend that patients with a personal or family history of Medullary Thyroid Cancer (MTC) should be evaluated for germline mutations of the RET proto-oncogene, regardless of age and the presence of thyroid nodules.

American Thyroid Association

Diagnosis of Medullary Thyroid Cancer (MTC)

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Attention

This test is NOT indicated for the selection of target drugs directed to the RET proto-oncogene, since it analyses germinal material. For selection of targeted therapies directed at the RET proto-oncogene, analysis of somatic (tumor) material is required. For this purpose, we offer the test mir-THYpe target.

Self-collection!

No needles. No blood. Fast and Painless.

We make the process as simple as possible! Self-collection with an oral swab is performed by the patient and the sample does not need to be frozen or refrigerated. All transport is done at room temperature.

1. Test application and questionnaire

Humanized support with experts in the subject to serve with quality throughout the whole process.

Medical Request
Questionnaire

2. Self-Collection Kit

Oral scraping with swab, non-invasive. Simple, painless and practical collection.

3. Simplified Logistics

The collected material is sent directly to the laboratory, in a simple, practical and safe way.

4. Uncomplicated Result

Easy to understand report, with management recommendations by the ATA (American Thyroid Association).

Nationwide Coverage

order from anywhere in Brazil

Innovation in logistics: our service is available throughout Brazil. The patient won´t need to travel to a laboratory - we will send a self-collection kit directly to his/her home, with all the self-collection instructions, in a simple and intuitive manner, no matter which city you are in.

Coverage throughout the national territory

Simple logistics, with the possibility of collecting at your patient's home

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