Genetics
We offer genetic assays from BDR Adellgene® line, which is a products range based on fragment analysis technology, in which DNA is amplified by conventional PCR and separated by capillary electrophoresis in a genetic sequencer. This technology allows to quantify the number of triplet repeats so as to classify genotypically a given sample. This product line is focused on rare diseases, being a very good CE solution for genetic laboratories.
Adellgene® Fragile X Screening
Adellgene® Fragile X is a semi-automated in vitro diagnostic kit designed for use in clinical laboratories for the amplification and quantitative determination of CGG triplet repeats (cytosine-guanine-guanine) in the 5’ untranslated region of gene for fragile X mental retardation (“Fragile X mental retardation-1”: FMR1). It aims to aid diagnosis of clinical disease associated with Fragile X syndrome (e.g.: mental retardation, primary ovarian failure, tremors / ataxia, etc.).
The technology is based on the polymerase chain reaction (PCR) amplification of genomic DNA extracted from peripheral blood, followed by fluorescence analysis of the size of the PCR fragments obtained by genetic analyzer.
Adellgene® Friedreich’s Ataxia
Adellgene® Friedreich’s Ataxia is a semi-automated in vitro diagnostic kit designed for use in clinical laboratories which quantitatively determines the number of repetitions of GAA (guanine-adenine-adenine) in the first intron of the gene encoding frataxin (FXN) located in chromosome 9 resulting in Friedreich’s ataxia disease. It aims to aid diagnosis associated with clinical findings in Friedreich’s ataxia that span from mild to severe symptoms.
The use of this kit is the determination of healthy alleles who have between 5 to 30 GAA repeats, patients with mild phenotype (30-49 repeats), and severe (50-1300).
The technology is based on the polymerase chain reaction (PCR) of genomic DNA extracted from peripheral blood followed by fluorescence analysis of the size of the PCR fragments obtained by genetic analyzer and conversion of that size in the number of GAA repeats.
Adellgene® Myotonic Dystrophy Screening
Adellgene® Myotonic Dystrophy Confirmatory is a semi-automated in vitro diagnostic kit designed for use in clinical laboratories which quantitatively determines the number of repetitions of CTG (cytosine-thymine-guanine) of 3´UTR region of the DMPK gene located in chromosome 19 resulting in Myotonic Dystrophy Type 1 (DM1) disease. It aims to aid diagnosis associated with clinical findings in DM1 that span from mild to severe symptoms.
The use of this kit is the confirmation of homozygous and detection of false homozygous for the occurrence of a higher range allele obtainable with Adellgene® Myotonic Dystrophy Screening kit.
The technology is based on the triplet repeat primed polymerase chain reaction (TP-PCR) of genomic DNA extracted from peripheral blood followed by fluorescence analysis of the PCR fragments obtained in a genetic analyzer.
Adellgene® SCAs
Adellgene® SCAs is a semi-automated in vitro diagnostic kit designed for use in clinical laboratories which quantitatively determines the number of repetitions of CAG of the SCA 1, 2, 3, 6, 7 at the beginning of the exons of the corresponding genes, and CTA/CTG repeats in the 3’UTR region in the SCA 8 gene. It aims to aid clinical diagnosis associated with autosomal dominant spinocerebellar ataxia.
The use of this kit is the determination of both healthy and unhealthy alleles which have a size equal or less than 200 repeats. The range of classification depends on the specific SCA type. Large abnormal expansions described for SCA 2, SCA 7, and SCA 8 with more than 200 repeats are not detected for this kit and it is necessary the use of other methodology to solve this kind of samples.
The technology is based on a multiplex polymerase chain reaction (PCR) of genomic DNA extracted from peripheral blood, followed by fluorescence analysis of the size of the PCR fragments obtained by genetic analyzer and conversion of that size in the number of CAG or CTA/CTG repeats.
Adellgene® Huntington Disease
Adellgene® Huntington Disease (HD) is a semi-automated in vitro diagnostic kit designed for use in clinical laboratories, for the quantitative determination of the number of repetitions of the CAG (cytosine-adenine-guanine) triplet, located on exon 1 of the IT15 gene (HTT), which can result in the formation of Huntington’s disease, also called Huntington’s Chorea. It aims to aid the clinical diagnosis associated with Huntington’s chorea, such as: subtle changes in coordination, involuntary minor movements, difficulty mentally planning, and often a depressed or irritable mood.
The use of this kit is for the determination of both healthy and unhealthy alleles, who have between 10 and 35 repetitions or more than 36 repetitions, respectively. Heterozygous and possible homozygous alleles with a size equal to or less than 121 CAG repeats are quantified. Possible alleles bigger than that size would be identified because of their pattern.
The technology is based on the triplet repeat primed polymerase chain reaction (TP-PCR) of genomic DNA extracted from peripheral blood, followed by fluorescence analysis of the size of the PCR fragments obtained by the genetic analyzer and conversion of that size into the respective number of CAG repeats. Moreover, the observation of the pattern of peaks allows to identify expanded alleles and to confirm the samples with homozygous normal alleles.
ADELLGENE® Fragment Analysis
From BDR Diagnostics we offer the ADELLGENE® Fragment Analysis extensive product line, designed for Molecular Diagnosis of triplet repeat disorders.
The technique is based on the DNA amplification by polymerase chain reaction (PCR), followed by fluorescent analysis of the obtained fragments.
FRAGILE X SYNDROME
Kit for the determination, by fluorescent fragment analysis, of the presence of healthy and premutated alleles of the FMR1 gene of Fragile X Syndrome.
HUNTINGTON DISEASE
Kit which detects, by fluorescent fragment analysis, the number of repetitions of the CAG triplet, located in the IT15 gene (HTT)
MYOTONIC DYSTROPHY SCREENING and MYOTONIC DYSTROPHY CONFIRMATORY
Kit for the determination, by fluorescent fragment analysis, of the number of repeats of CTG triplets of the DMPK gene
FRIEDREICH´S ATAXIA
Kit for the determination, by fluorescent fragment analysis, of the number of repeats of GAA triplets of the FXN gene
