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.

Key Features:

1. Comprehensive Analysis: Imegen® Friedreich Kit offers a comprehensive analysis of GAA triplet expansions in the FXN gene. It provides the means to detect both normal and expanded repeats with remarkable accuracy.
2. PCR and TP-PCR: This kit employs conventional PCR and TP-PCR (triplet repeat primed PCR) techniques to identify the GAA expansions. While conventional PCR covers repeats of up to 500 base pairs, TP-PCR is utilized to detect larger expansions that may go undetected by standard PCR methods.
3. Reliable Results: Imegen® Friedreich Kit is a reliable diagnostic tool that meets stringent quality requirements specified by ISO 9001 and ISO 14001. Its precision and consistency are invaluable in the field of molecular genetics.
4. In Vitro Diagnostics: The kit is specifically designed for in vitro diagnostic use, making it an indispensable resource for professionals working in the molecular biology sector. It adheres to the highest standards of accuracy and reliability required for diagnostic purposes.
5. Sample Compatibility: Imegen® Friedreich Kit requires only 50 ng of genomic DNA extracted from peripheral blood for each analysis. This minimally invasive sample collection process ensures patient comfort while delivering accurate results.
6. Time-Efficient: With a manual work time of just 45 minutes and a PCR/TP-PCR program duration of 2 hours and 15 minutes, this kit streamlines the diagnostic process, allowing for quicker diagnoses and treatment decisions.

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.