BREAST CANCER - GENETIC TESTS
ONLY 5 out of 100 (5%) women with a history of breast cancer who will undergo a BRCA1 / 2 genetic test, will get a result with a clearly pathogenic mutation. Also, 13 out of the 100 (13%) women who will undergo molecular testing with multiple genes NGS panels, for breast cancer, will get a result with a clearly pathogenic mutation.
Women who undergo conventional genetic testing using gene panels on the NGS platform will receive, for the most part (> 87%), a report without clinical significance. (Data from a study by the Mayo Clinic and Ambry Genetics, in approximately 150,000 molecular tests.
The gap left by this high percentage (> 87%) of UNCLEAR genetic results (which means prolonged anxiety and worry of women in control), comes to fill the Polygenic Risk Score (PRS). A combination of many mutations of different genes, which individually have no clear clinical significance. On the contrary, from the combination of these mutations / polymorphisms, with the use of specific mathematical models but also with the addition of a detailed medical and family history, a Score (PRS) emerges, which classifies the examined as High or Low risk.
For the extraction of Polygenic Risk Score (PRS) in breast cancer we offer molecular control Whole Genome Sequencing (WGS). WGS molecular testing is the most complete option as it allows the assessment of risk, high or low, in the absence of clearly pathogenic mutations in breast cancer-related genes.
In addition, the WGS + PRS method adapts to any future improved changes that occur to control different genetic targets, at no extra charge.
A NECESSARY CONDITION FOR CONDUCTING THE EXAMINATION IS TO HAVE YOUR DOCTOR'S REFERENCE AND TO COMPLETE YOUR FOLLOWING INFORMATION (MEDICAL AND FAMILY HISTORY)
NIFTY PRO includes the control of 84 types of syndromes (micro-elliptical / duplication), the structural abnormalities (eg trisomies, deficiencies) of all chromosomes.
More information can be found on the BGI website:
NIFTY GOLD includes that NIFTY PRO with additional mother control (carrier screening) for:
1) 99.6% of Cystic Fibrosis with NGS,
2) 97% of B-Glovin with NGS,
3) SMN1 Spinal Muscular Atrophy (~ 95%), with MLPA,
4) SMN1 "2 + 0" (SMN1 silent carrier) genotype detection with NGS and
5) Neonatal screening for 60 metabolic diseases from a Guthrie card, with mass spectroscopy and ELISA.
After the 10th week. The response time of the test varies from 1 to 2 weeks.