Genetics

In addition to presenting the necessary systems and tests to provide valuable data in diagnosis and treatment of diseases, we provide strong technical infrastructure, bioinformatics, 7/24 technical support, fast service and complete solutions by determining our priorities correctly.

Genvinset® Real time PCR

GENVINSET® is a product line designed to detect genetic markers by Real Time PCR. This technique is a variation of the polymerase chain reaction that allows amplification and simultaneously quantify of DNA fragments. It is a diagnostic method high demanded and extended because of its high sensitivity, speed and reproducibility.

HLA B27
Detection by RT-PCR of the HLA*B27 Alleles

HLA B5701
Detection by RT-PCR of the HLA-B*57:01 alleles

HLA CELIAC
Detection by RT-PCR of the DQB1*02, DQB1*03:02 and DQA1*05 alleles associated with celiac disease

HLA A29
Detection by RT-PCR of the A*29 alleles

HLA NARCOLEPSY
Detection by RT-PCR of the DQB1*06:02 alleles

HLA BEHÇET’S DISEASE
Detection by RT-PCR of the HLA-B*51 and B*52 Alleles

HFE HEMOCHROMATOSIS
Detection by RT-PCR for the determination of the C282Y, S65C and H63D mutations, associated with primary hemochromatosis

IL28B
Detection of the C/T di-allelic system of the rs12979860 microsatellite of IL28B gene by Real Time PCR

THROMBOSIS PANEL
Factor II G20210A, Factor V G1691A and MTHFR C677T

Adellgene ® DNA Fragment Analysis

ADELLGENE® is a product line designed for Molecular Diagnosis of triplet repeat disorders. The technique is based on the DNA amplification by the polymerase chain reaction (PCR) following by fluorescent analysis of the obtained fragments. It´s a very extended technique in the laboratories of genetic analysis.

FRAGILE X SYNDROME
Determination of the presence of healthy and premutated alleles of the FMR1 gene of Fragile X Syndrome

HUNTINGTON DISEASE
Determination of the number of CAG triplets of the HD gene

SPINOCEREBELLAR ATAXIAS (SCAs)
Determination of the number of CAG and CTA/CTG repetitions associated to SCAs 1, 2, 3, 6, 7 and SCA 8, respectively.

MYOTONIC DYSTROPHY SCREENING
Determination of the presence of healthy, premutated and mutated alleles with less than 200 repetitions of DMPK gene of Myotonic Dystrophy type 1

MYOTONIC DYSTROPHY CONFIRMATORY
Determination of the presence of healthy, premutated and mutated alleles of the DMPK gene of Myotonic Dystrophy type 1

FRIEDREICH´S ATAXIA
Detection of the number of repetitions of GAA

Invivoscribe

LymphoTrack® Assays

Research Use Only

LymphoTrack Assays for Research Use Only are used to identify and track clonal lymphocyte populations. These RUO assays, developed for use with the leading Next-Generation Sequencing (NGS) platforms, include optimized multiplex PCR master mixes with primers incorporating both platform specific adapters, and specimen tracking Seq ID tags for single step workflow. They also include a comprehensive bioinformatics package, enabling you to identify the DNA sequence, clonal prevalence, and V-J family identity for each gene rearrangement.

MISEQ®  is a registered trademark of Illumina, Inc.

ION PGM™ is a trademark of Thermo Fisher Scientific.

MISEQ®         ION PGM


LymphoTrack® Dx Assays

CE-IVD

Invivoscribe LymphoTrack Dx Assays are used to identify and track clonal lymphocyte populations. These CE-IVD assays, developed for use with the leading Next-Generation Sequencing (NGS) platforms, include optimized multiplex PCR master mixes with primers incorporating platform specific adapters and specimen tracking sequencing identification tags for a one-step PCR workflow. A comprehensive bioinformatics software package  is provided  with purchase;  enabling you to identify the DNA sequence, clonal prevalence, V-J family identity for each gene rearrangements, and with the IGH assays, the extent of IGHV somatic hypermutation (SHM).

MISEQ®  is aregistered trademark of Illumina, Inc.

ION PGM™ is a trademark of Thermo Fisher Scientific.

MISEQ®         ION PGM


LeukoStratTM

CE-IVD

These molecular diagnostic products are used worldwide to determine the mutation status of the FLT3 and NPM1 biomarkers, providing information critical for assessing prognosis for patients with acute myeloid leukemia. These tests have demonstrated clinical efficacy in stratifying disease and helping to determine the most appropriate treatment options. Our LeukoStrat CE-marked in vitro diagnostic products are for sale and use only outside of North America.


IdentiCloneTM

CE-IVD

IdentiClone assay kits are intended for PCR-based detection of clonal gene rearrangements and translocations in patients with suspected lymphoproliferations. These molecular diagnostic products were developed and clinically validated by the BIOMED-2 Group. They are used to test DNA extracted from a variety of patient samples and have demonstrated clinical efficacy identifying clonal populations in suspect lymphoproliferations. Our IdentiClone CE-marked in vitro diagnostic products are for sale and use only outside of North America.


MyAMLTM

Gene Panel – 194 AML specific genes

MyAML is a targeted panel that analyze the coding and non-coding exons of nearly 200 genes along with breakpoint hotspots within 36 of these genes identified in somatic gene fusions. MyAML combines long read chemistry and deep sequencing with an optimized and validated custom bioinformatics pipeline, MyInformatics™, to specifically examine genomic variants in AML patients.


MyHEMETM

Gene Panel – 570 genes & 370 RNAs

For blood cancers other than AML, consider MyHEME. The MyHEME NGS panel identifies clinically actionable, pathogenic, and potentially pathogenic mutations in more than 700 genes associated with hematological malignancies.