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Accurate and affordable diagnosis with the gMendel®Test

The gMendel®Test is our end-to-end solution for the detection and medical interpretation of genetic disorders. It can detect genetic disorders prenatally or postnatally.

Based on any third-party sequencing technology, the gMendel®Test enables real-time analysis of hundreds of molecular barcodes simultaneously in less than 24 hours.

 

 

The technology of the gMendel®Test is simple and practical, has greater detection capabilities than the available technologies and it can be extended, scaled and applied for the detection of multiple genetic disorders.

With the gMendel®Test, we aim to revolutionize the Basic Carrier Testing (BCT), Non-Invasive Prenatal Testing (NIPT), Newborn Screening programs (NBS) in Europe and around the world.

   Current patient journey 

 

*Disclaimer: For this image, we drew inspiration from the Solve-RD infographic
on the patient journey to diagnosis, published by EURORDIS.

vs. the gMendel® approach 

Shorter path to diagnosis gMendel Test

a) Basic Carrier Test (BCT) for future parents (before conception)
b) Non-Invasive Prenatal Test (NIPT) (during pregnancy)
c) Newborn Screening Test (NBS) (after birth)

The technology of the gMendel®Test 

The gMendel®Test operates as a digital sensor by calculating fractions of reads from one given chromosome, gene or a region of a gene. It is possible to count aneuploidies, identify aberrations from a normal karyotype, receive a “positive” signal for insertions of nucleotides, and “negative” signals for deletions of nucleotides. When there are point mutations, the measured nucleotide will be different from the reference nucleotide and therefore the transmitted signal will be neither positive nor negative, but it will have a different width from the reference nucleotide.

Variants are analysed, classified and assessed with the support of our proprietary Phivea® platform. Phivea® uses a custom tailor-made analysis pipeline for genetic disorders detection. Only the sequences that meet the quality criteria are processed and de-multiplexing of barcodes (based on Person classification) is executed. The multi-level multiplexing labels each DNA sample with a molecular barcode.

The plurality of DNA samples is organized into several groups, each having a unique group barcode, and each sample within a group has a unique sample barcode. Multi-level multiplex process in parallel genomic data from multiple sources containing replicates of each source and a reference pool for build-in benchmarking and calibration of the diagnostic compute model and quality estimation. Finally, the diagnosis is done following a multi model fusion strategy, the outcomes of the individual models are combined into a single and accurate decision.

All data are secured by blockchain technology. This technology uses two types of security approaches i.e. Cryptography and Hashing, producing a structure of data with inherent security qualities. In conclusion, Phivea® produces encrypted data more sensitively and securely in a shorter period of time.

 

GM Infographic Web-01

The gMendel®Test is made for

Patients and their families

Families living with genetic disorders can now receive an accurate diagnosis in time for treatment. Shorter path to diagnosis means faster access to medical care, lower financial burden, reduced stress and more precious time spent with the family.

Diagnostic laboratories

Medical laboratories and clinics can benefit from lower downstream expenses, shorter lead times and high quality patient referrals and admissions. As a result, they can offer improved services and experience to their patients.

MDs and hospitals

By using the gMendel®Test, medical doctors can make solid and informed decisions about the rare conditions of their patients, create referral resources of genetic disorders and plan treatment of their patients when truly needed.

Healthcare industry

The gMendel®Test is the only customised, IVD-certified and scalable screening technology that offers real-time data analysis with accuracy over 99% at a low cost; an award-winning innovation that enables better disease management.