QUASAR-BRCA1/2
PCR / NGS
QUASAR-BRCA1/2
The testing kit is designed to detect germline and somatic mutations in the BRCA1, BRCA2 genes by NGS-sequencing and is recommended for determining predisposition to developing hereditary forms of breast cancer, ovarian cancer in healthy women, and when examining patients diagnosed with breast cancer and ovarian cancer in order to determination of effective treatment tactics.
Advantages
- The kit determines all mutations in the coding regions of the BRCA1 and BRCA2 genes, as well as in adjacent intron regions.
- Simple to prepare libraries.
- Free of charge automated system of bioinformation analysis XplainBio, makes it easier to interpret the collected data.
Detection method
Real-tme PCR + mass parallel sequencing (NGS)
Analysis type
Qualitative
Mutations detection
BRCA 1, BRCA 2
all mutations in the coding exones and in adjacent intron regions
Samples
Whole blood/Tissue fixed in formalin and embedded in paraffin (FFPE blocks)
Analytical sensitivity
300 copies of the BRCA1, BRCA2 genes per 1 µl of the DNA solution
Sensirtivity
Whole blood 94,22-100 % / Tissue 90,75-100 %
Specificity
Whole blood 91,78-100 % / Tissue 88,06-100 %
Preparing samples for sequencing
4-5 hours
Number of reactions
48 / 96
Equipment
CFX96, DTPrime, Rotor-Gene Q, QuantStudio 5, Illumina MiSeq with a GenerateFastq module, Illumina NextSeq.
A device for measuring the concentration and purity of NA.
A device for measuring the concentration and purity of NA.
Transportation and
Storage conditions
Storage conditions
Package 1
-15 …-25 °C 12 months
+2 …+8 °C 5 days
-15 …-25 °C 12 months
+2 …+8 °C 5 days
Package 2
+2 …+8 °C 12 months
+2 …+30 °C 5 days
+2 …+8 °C 12 months
+2 …+30 °C 5 days
not more than 5 cycles of freezing / thawing are allowed
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