BRCA1 and BRCA2 gene sequencing

1,599.00 

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Sequencing of the encoding (exon) sequence of the BRCA1 and BRCA2 gene with the use of the Next Generation Sequencing technique.

The NGS testing method ensures the highest reliability of the results. Breast and ovarian malignancies belong to the most common causes of women’s death globally.

 

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SKU: 4634 Category:
 

Description

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Perform this test if:

  • You are a woman in whom breast or ovarian cancer was diagnosed, in particular if the disease occurred at young age, the cancer is bilateral or there have been malignancies in your family. The result of the test for mutation carrying may be the basis for the selection of the optimal treatment method and to demonstrate whether there aren’t any predispositions to another, unassociated cancer disease.
  • You are a woman with the family history of breast or ovarian cancer or of other malignancies, including pancreatic, prostate, endometrial or cervical cancer
  • You want to begin using hormonal contraception which increases the risk of disease by further 26%
  • You are a young woman with any changes in breasts or ovaries and you intend to begin using hormonal contraception
  • You want to begin using hormone replacement therapy (HRT), in particular if you have the family history of cancer diseases
  • You are a woman with any changes in breasts or ovaries and you have the family history of cancer diseases
  • You use hormonal contraception or hormone replacement therapy and you have the family history of breast and/or ovarian cancer (considering the increased risk of neoplasms resulting from hormonal therapy)

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Breast and ovarian malignancies continue to be one of the most common causes of women’s death globally. Among women in Poland, breast cancer is the most common and is the cause of over 20% of all malignancies. In the epidemiologic analysis, in addition to environmental and endogenous factors, genetic background is mentioned as one of the most significant factors involved in the breast and ovarian cancer etiology. Among them, mutations in BRCA genes associated with high penetration, i.e. high risk of disease, are responsible for the significant part of hereditary predispositions to the development of breast and ovarian cancers.

It has been demonstrated that carrying a mutation in the BRCA1 gene is strongly related to the increased risk of developing breast cancer and ovarian cancer, from 60% to 85% in case of breast cancer and from 40% to 60% for ovarian cancer. The presence of BRCA1 mutation is related to early onset of the disease, i.e. before 40 years of age, as well as with the increased risk of bilateral breast cancer and the increased risk of cancer in other sites, e.g. pancreas or colon.

It has been demonstrated that carrying a mutation in the BRCA2 gene is strongly related to the increased risk of developing breast cancer and/or ovarian cancer, from 40% to 80% in case of breast cancer and from 11% to 27% as regards ovarian cancer. Moreover, the presence of BRCA2 mutation is related to the higher risk of developing other cancers, including prostate cancer and male breast cancer.

It has been demonstrated that there is a connection between the location of the mutation along BRCA1 and BRCA2 genes and the clinical outcome and a number of clinical features typical for the BRCA1 and BRCA2 gene-dependent breast and ovarian cancers.

Detection of a mutation in the BRCA1 and/or BRCA2 gene allows for early introduction of appropriate preventive measures which enable the prevention of the disease or its detection at its early stage. In the event of its occurrence, diagnostic tests for mutations within the BRCA1 and/or BRCA2 gene in patients can be very useful for the oncologist when choosing the appropriate therapy.
The test allows to perform sequencing of the whole encoding sequence of the BRCA1 and BRCA2 gene with adjoining intron sequences, therefore it significantly increases chances of detection of pathogenic variants of the BRCA1 and BRCA2 gene in the general population.

Additional information

Metoda Badania

NGS -Next Generation Sequencing

Zawartość Zestawu

Probówka- 1 szt., zakrętka probówki – 1 szt., lejek z płynem prezerwującym – 1 szt., instrukcja pobrania materiału – 1 szt., zestaw kodów kreskowych (kod identyfikacyjny badania), skierowanie na badania genetyczne – 1 szt.

Skierowanie na badania

Dane niezbędne do uzupełnienia na skierowaniu: imię, nazwisko, PESEL, data urodzenia, miejsc przesłania raportu z badań (wyniku), data i godzina pobrania materiału, rozpoznanie kliniczne / wskazanie do wykonania badania, rodzaj materiału, zlecone badanie/a, podpis pacjenta, deklaracja świadomej zgody na badania genetyczne wraz z podpisem.

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