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
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
Detection of the number of repetitions of GAA