The last decade in Medicine was marked by great innovations brought by genetics to the oncology, rare diseases and reproductive medicine areas. This revolution was only possible with the advent of the first Next Generation sequencers (Next Generation Sequencing, NGS), from the second half of the 2000s. NGS increased the human genome analysis capacity in millions of times and reduced the sequencing cost and time.
Mendelics laboratory was the first one in Brazil to conduct NGS tests and so far, it has the greatest capacity in Latin America to process this type of test, including laboratory, data processing/analysis structure, and multidisciplinary team comprising the best professionals in the area (geneticist physicians, biologists, biophysicians and bioinformatics professionals).
Our Process
Screening
As the sample and documentation arrive at Mendelics, their eligibility are evaluated by our screening team.
DNA Extraction
All the eligible samples are submitted to a DNA extraction step, when the sample quality will be evaluated for subsequent processing.
The quality of the collection influences the quality and quantity of the extracted DNA. For this reason, it’s very important to follow the steps indicating how to proceed with the collection.
Library preparation
In the NGS laboratory step, protocols allowing the collection and amplification of the genes analyzed in the test are conducted.
A great NGS innovation is the possibility to sequence hundreds of samples in a single run. For this, all the samples that will be processed together receive a unique identifier (“index”) so that it is possible to differentiate them in the analysis step.
Next Generation Sequencing (NGS)
Following the laboratory preparation, the samples are submitted to sequencing in the NovaSeq 6000 System (IlluminaⓇ).
Bioinformatics
The huge amount of data generated by NGS required the development of an area called bioinformatics.
The purpose of bioinformatics is to transform the huge amount of data generated in the sequencing into a single, compact, file containing the most relevant information for subsequent interpretation and analysis by the geneticist physicians.
In this step, the quality of the sequencing of each sample is verified. As Mendelics is accredited by CAP, all the samples need to meet the strict quality parameters required by such accreditation.
Abracadabra and Medical Analysis
All the NGS tests analyzed at Mendelics are conducted by geneticist physicians in a platform called Abracadabra®, which uses artificial intelligence to make the genetic analysis more precise and efficient. The platform is internationally recognized as being one of the best genetic analysis tools and is intended for exclusive use by Mendelics.
Reports
Following the analysis step, our geneticist physicians team elaborate the test reports, which are uploaded and available online to patients and physicians.
1 – Screening
As the sample and documentation arrive at Mendelics, their eligibility are evaluated by our screening team.
2 – DNA Extraction
All the eligible samples are submitted to a DNA extraction step, when the sample quality will be evaluated for subsequent processing.
The quality of the collection influences the quality and quantity of the extracted DNA. For this reason, it’s very important to follow the steps indicating how to proceed with the collection.
3 – Library preparation
In the NGS laboratory step, protocols allowing the collection and amplification of the genes analyzed in the test are conducted.
A great NGS innovation is the possibility to sequence hundreds of samples in a single run. For this, all the samples that will be processed together receive a unique identifier (“index”) so that it is possible to differentiate them in the analysis step.
4 – Next Generation Sequencing (NGS)
Following the laboratory preparation, the samples are submitted to sequencing in the NovaSeq 6000 System (IlluminaⓇ).
5 – Bioinformatics
The huge amount of data generated by NGS required the development of an area called bioinformatics.
The purpose of bioinformatics is to transform the huge amount of data generated in the sequencing into a single, compact, file containing the most relevant information for subsequent interpretation and analysis by the geneticist physicians.
In this step, the quality of the sequencing of each sample is verified. As Mendelics is accredited by CAP, all the samples need to meet the strict quality parameters required by such accreditation.
6 – Abracadabra and Medical Analysis
All the NGS tests analyzed at Mendelics are conducted by geneticist physicians in a platform called Abracadabra®, which uses artificial intelligence to make the genetic analysis more precise and efficient. The platform is internationally recognized as being one of the best genetic analysis tools and is intended for exclusive use by Mendelics.
7 – Reports
Following the analysis step, our geneticist physicians team elaborate the test reports, which are uploaded and available online to patients and physicians.
