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Imegen® Friedreich Kit: A Breakthrough in Friedreich’s Ataxia Detection
Friedreich’s ataxia (FRDA) is a rare hereditary ataxia, affecting approximately 1 in 29,000 individuals worldwide. It is characterized by progressive degeneration of the nervous system, leading to symptoms such as ataxia, dysarthria, impaired vibration sense, muscle weakness, and even cardiomyopathy. FRDA follows an autosomal recessive inheritance pattern, and in most cases (98%), it is caused by a homozygous expansion of trinucleotide GAA repeats in the intron 1 of the FXN gene located on chromosome 9q13.
The hallmark of FRDA diagnosis lies in determining the number of GAA trinucleotide repeats. In individuals with FRDA, this expansion can range from 66 to over 1,300 repeats, whereas individuals with fewer than 33 repeats are considered normal. Accurate detection of these expanded repeats is crucial for the diagnosis and management of FRDA.
Imegen® Friedreich Kit – Unveiling the Genetic Clues
The Imegen® Friedreich Kit is a cutting-edge diagnostic tool designed to unravel the mysteries of Friedreich’s ataxia. This kit employs state-of-the-art molecular techniques to detect the GAA expansion in the FXN gene, allowing for precise diagnosis and improved patient care.
A Game-Changer in FRDA Diagnosis
Friedreich’s ataxia can be a devastating condition, but early and accurate diagnosis is key to managing the disease effectively. Imegen® Friedreich Kit empowers healthcare professionals with the tools they need to make precise diagnoses, paving the way for tailored treatment plans and improved patient outcomes.
By harnessing the power of PCR and TP-PCR technologies, this kit ensures that no expansion goes undetected. Its compatibility with a range of thermal cyclers and the use of 6-Carboxyfluorescein (6-FAM) compatible polymers for sequencing make it a versatile and dependable choice for laboratories worldwide.
In summary, Imegen® Friedreich Kit is a vital instrument in the fight against Friedreich’s ataxia. Its accuracy, speed, and reliability make it an invaluable resource for clinicians, geneticists, and researchers dedicated to improving the lives of individuals affected by this rare genetic disorder.
As we continue to advance our understanding of genetic diseases, tools like Imegen® Friedreich Kit bring us one step closer to early intervention and more effective treatments for Friedreich’s ataxia and other genetic conditions.
Friedreich A Master Mix, Friedreich B Master Mix, General Master Mix IV (MSDS-G6), Friedreich Taq (MSDS-G1), PCR Master Mix, TP-PCR Master Mix